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NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001186735.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)]

NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
HGVS:
  • NC_000017.11:g.43067626G>A
  • NG_005905.2:g.150358C>T
  • NM_001407571.1:c.4843C>T
  • NM_001407581.1:c.5122C>T
  • NM_001407582.1:c.5122C>T
  • NM_001407583.1:c.5119C>T
  • NM_001407585.1:c.5119C>T
  • NM_001407587.1:c.5119C>T
  • NM_001407590.1:c.5116C>T
  • NM_001407591.1:c.5116C>T
  • NM_001407593.1:c.5056C>T
  • NM_001407594.1:c.5056C>T
  • NM_001407596.1:c.5056C>T
  • NM_001407597.1:c.5056C>T
  • NM_001407598.1:c.5056C>T
  • NM_001407602.1:c.5056C>T
  • NM_001407603.1:c.5056C>T
  • NM_001407605.1:c.5056C>T
  • NM_001407610.1:c.5053C>T
  • NM_001407611.1:c.5053C>T
  • NM_001407612.1:c.5053C>T
  • NM_001407613.1:c.5053C>T
  • NM_001407614.1:c.5053C>T
  • NM_001407615.1:c.5053C>T
  • NM_001407616.1:c.5053C>T
  • NM_001407617.1:c.5053C>T
  • NM_001407618.1:c.5053C>T
  • NM_001407619.1:c.5053C>T
  • NM_001407620.1:c.5053C>T
  • NM_001407621.1:c.5053C>T
  • NM_001407622.1:c.5053C>T
  • NM_001407623.1:c.5053C>T
  • NM_001407624.1:c.5053C>T
  • NM_001407625.1:c.5053C>T
  • NM_001407626.1:c.5053C>T
  • NM_001407627.1:c.5050C>T
  • NM_001407628.1:c.5050C>T
  • NM_001407629.1:c.5050C>T
  • NM_001407630.1:c.5050C>T
  • NM_001407631.1:c.5050C>T
  • NM_001407632.1:c.5050C>T
  • NM_001407633.1:c.5050C>T
  • NM_001407634.1:c.5050C>T
  • NM_001407635.1:c.5050C>T
  • NM_001407636.1:c.5050C>T
  • NM_001407637.1:c.5050C>T
  • NM_001407638.1:c.5050C>T
  • NM_001407639.1:c.5050C>T
  • NM_001407640.1:c.5050C>T
  • NM_001407641.1:c.5050C>T
  • NM_001407642.1:c.5050C>T
  • NM_001407644.1:c.5047C>T
  • NM_001407645.1:c.5047C>T
  • NM_001407646.1:c.5044C>T
  • NM_001407647.1:c.5041C>T
  • NM_001407648.1:c.4999C>T
  • NM_001407649.1:c.4996C>T
  • NM_001407652.1:c.5056C>T
  • NM_001407653.1:c.4978C>T
  • NM_001407654.1:c.4978C>T
  • NM_001407655.1:c.4978C>T
  • NM_001407656.1:c.4975C>T
  • NM_001407657.1:c.4975C>T
  • NM_001407658.1:c.4975C>T
  • NM_001407659.1:c.4972C>T
  • NM_001407660.1:c.4972C>T
  • NM_001407661.1:c.4972C>T
  • NM_001407662.1:c.4972C>T
  • NM_001407663.1:c.4972C>T
  • NM_001407664.1:c.4933C>T
  • NM_001407665.1:c.4933C>T
  • NM_001407666.1:c.4933C>T
  • NM_001407667.1:c.4933C>T
  • NM_001407668.1:c.4933C>T
  • NM_001407669.1:c.4933C>T
  • NM_001407670.1:c.4930C>T
  • NM_001407671.1:c.4930C>T
  • NM_001407672.1:c.4930C>T
  • NM_001407673.1:c.4930C>T
  • NM_001407674.1:c.4930C>T
  • NM_001407675.1:c.4930C>T
  • NM_001407676.1:c.4930C>T
  • NM_001407677.1:c.4930C>T
  • NM_001407678.1:c.4930C>T
  • NM_001407679.1:c.4930C>T
  • NM_001407680.1:c.4930C>T
  • NM_001407681.1:c.4927C>T
  • NM_001407682.1:c.4927C>T
  • NM_001407683.1:c.4927C>T
  • NM_001407684.1:c.5056C>T
  • NM_001407685.1:c.4927C>T
  • NM_001407686.1:c.4927C>T
  • NM_001407687.1:c.4927C>T
  • NM_001407688.1:c.4927C>T
  • NM_001407689.1:c.4927C>T
  • NM_001407690.1:c.4924C>T
  • NM_001407691.1:c.4924C>T
  • NM_001407692.1:c.4915C>T
  • NM_001407694.1:c.4915C>T
  • NM_001407695.1:c.4915C>T
  • NM_001407696.1:c.4915C>T
  • NM_001407697.1:c.4915C>T
  • NM_001407698.1:c.4915C>T
  • NM_001407724.1:c.4915C>T
  • NM_001407725.1:c.4915C>T
  • NM_001407726.1:c.4915C>T
  • NM_001407727.1:c.4915C>T
  • NM_001407728.1:c.4915C>T
  • NM_001407729.1:c.4915C>T
  • NM_001407730.1:c.4915C>T
  • NM_001407731.1:c.4915C>T
  • NM_001407732.1:c.4912C>T
  • NM_001407733.1:c.4912C>T
  • NM_001407734.1:c.4912C>T
  • NM_001407735.1:c.4912C>T
  • NM_001407736.1:c.4912C>T
  • NM_001407737.1:c.4912C>T
  • NM_001407738.1:c.4912C>T
  • NM_001407739.1:c.4912C>T
  • NM_001407740.1:c.4912C>T
  • NM_001407741.1:c.4912C>T
  • NM_001407742.1:c.4912C>T
  • NM_001407743.1:c.4912C>T
  • NM_001407744.1:c.4912C>T
  • NM_001407745.1:c.4912C>T
  • NM_001407746.1:c.4912C>T
  • NM_001407747.1:c.4912C>T
  • NM_001407748.1:c.4912C>T
  • NM_001407749.1:c.4912C>T
  • NM_001407750.1:c.4912C>T
  • NM_001407751.1:c.4912C>T
  • NM_001407752.1:c.4912C>T
  • NM_001407838.1:c.4909C>T
  • NM_001407839.1:c.4909C>T
  • NM_001407841.1:c.4909C>T
  • NM_001407842.1:c.4909C>T
  • NM_001407843.1:c.4909C>T
  • NM_001407844.1:c.4909C>T
  • NM_001407845.1:c.4909C>T
  • NM_001407846.1:c.4909C>T
  • NM_001407847.1:c.4909C>T
  • NM_001407848.1:c.4909C>T
  • NM_001407849.1:c.4909C>T
  • NM_001407850.1:c.4909C>T
  • NM_001407851.1:c.4909C>T
  • NM_001407852.1:c.4909C>T
  • NM_001407853.1:c.4909C>T
  • NM_001407854.1:c.5056C>T
  • NM_001407858.1:c.5053C>T
  • NM_001407859.1:c.5053C>T
  • NM_001407860.1:c.5053C>T
  • NM_001407861.1:c.5050C>T
  • NM_001407862.1:c.4855C>T
  • NM_001407863.1:c.4930C>T
  • NM_001407874.1:c.4849C>T
  • NM_001407875.1:c.4849C>T
  • NM_001407879.1:c.4846C>T
  • NM_001407881.1:c.4846C>T
  • NM_001407882.1:c.4846C>T
  • NM_001407884.1:c.4846C>T
  • NM_001407885.1:c.4846C>T
  • NM_001407886.1:c.4846C>T
  • NM_001407887.1:c.4846C>T
  • NM_001407889.1:c.4846C>T
  • NM_001407894.1:c.4843C>T
  • NM_001407895.1:c.4843C>T
  • NM_001407896.1:c.4843C>T
  • NM_001407897.1:c.4843C>T
  • NM_001407898.1:c.4843C>T
  • NM_001407899.1:c.4843C>T
  • NM_001407900.1:c.4843C>T
  • NM_001407902.1:c.4843C>T
  • NM_001407904.1:c.4843C>T
  • NM_001407906.1:c.4843C>T
  • NM_001407907.1:c.4843C>T
  • NM_001407908.1:c.4843C>T
  • NM_001407909.1:c.4843C>T
  • NM_001407910.1:c.4843C>T
  • NM_001407915.1:c.4840C>T
  • NM_001407916.1:c.4840C>T
  • NM_001407917.1:c.4840C>T
  • NM_001407918.1:c.4840C>T
  • NM_001407919.1:c.4933C>T
  • NM_001407920.1:c.4792C>T
  • NM_001407921.1:c.4792C>T
  • NM_001407922.1:c.4792C>T
  • NM_001407923.1:c.4792C>T
  • NM_001407924.1:c.4792C>T
  • NM_001407925.1:c.4792C>T
  • NM_001407926.1:c.4792C>T
  • NM_001407927.1:c.4789C>T
  • NM_001407928.1:c.4789C>T
  • NM_001407929.1:c.4789C>T
  • NM_001407930.1:c.4789C>T
  • NM_001407931.1:c.4789C>T
  • NM_001407932.1:c.4789C>T
  • NM_001407933.1:c.4789C>T
  • NM_001407934.1:c.4786C>T
  • NM_001407935.1:c.4786C>T
  • NM_001407936.1:c.4786C>T
  • NM_001407937.1:c.4933C>T
  • NM_001407938.1:c.4933C>T
  • NM_001407939.1:c.4930C>T
  • NM_001407940.1:c.4930C>T
  • NM_001407941.1:c.4927C>T
  • NM_001407942.1:c.4915C>T
  • NM_001407943.1:c.4912C>T
  • NM_001407944.1:c.4912C>T
  • NM_001407945.1:c.4912C>T
  • NM_001407946.1:c.4723C>T
  • NM_001407947.1:c.4723C>T
  • NM_001407948.1:c.4723C>T
  • NM_001407949.1:c.4723C>T
  • NM_001407950.1:c.4720C>T
  • NM_001407951.1:c.4720C>T
  • NM_001407952.1:c.4720C>T
  • NM_001407953.1:c.4720C>T
  • NM_001407954.1:c.4720C>T
  • NM_001407955.1:c.4720C>T
  • NM_001407956.1:c.4717C>T
  • NM_001407957.1:c.4717C>T
  • NM_001407958.1:c.4717C>T
  • NM_001407959.1:c.4675C>T
  • NM_001407960.1:c.4672C>T
  • NM_001407962.1:c.4672C>T
  • NM_001407963.1:c.4669C>T
  • NM_001407964.1:c.4594C>T
  • NM_001407965.1:c.4549C>T
  • NM_001407966.1:c.4168C>T
  • NM_001407967.1:c.4165C>T
  • NM_001407968.1:c.2452C>T
  • NM_001407969.1:c.2449C>T
  • NM_001407970.1:c.1813C>T
  • NM_001407971.1:c.1813C>T
  • NM_001407972.1:c.1810C>T
  • NM_001407973.1:c.1747C>T
  • NM_001407974.1:c.1747C>T
  • NM_001407975.1:c.1747C>T
  • NM_001407976.1:c.1747C>T
  • NM_001407977.1:c.1747C>T
  • NM_001407978.1:c.1747C>T
  • NM_001407979.1:c.1744C>T
  • NM_001407980.1:c.1744C>T
  • NM_001407981.1:c.1744C>T
  • NM_001407982.1:c.1744C>T
  • NM_001407983.1:c.1744C>T
  • NM_001407984.1:c.1744C>T
  • NM_001407985.1:c.1744C>T
  • NM_001407986.1:c.1744C>T
  • NM_001407990.1:c.1744C>T
  • NM_001407991.1:c.1744C>T
  • NM_001407992.1:c.1744C>T
  • NM_001407993.1:c.1744C>T
  • NM_001408392.1:c.1741C>T
  • NM_001408396.1:c.1741C>T
  • NM_001408397.1:c.1741C>T
  • NM_001408398.1:c.1741C>T
  • NM_001408399.1:c.1741C>T
  • NM_001408400.1:c.1741C>T
  • NM_001408401.1:c.1741C>T
  • NM_001408402.1:c.1741C>T
  • NM_001408403.1:c.1741C>T
  • NM_001408404.1:c.1741C>T
  • NM_001408406.1:c.1738C>T
  • NM_001408407.1:c.1738C>T
  • NM_001408408.1:c.1738C>T
  • NM_001408409.1:c.1735C>T
  • NM_001408410.1:c.1672C>T
  • NM_001408411.1:c.1669C>T
  • NM_001408412.1:c.1666C>T
  • NM_001408413.1:c.1666C>T
  • NM_001408414.1:c.1666C>T
  • NM_001408415.1:c.1666C>T
  • NM_001408416.1:c.1666C>T
  • NM_001408418.1:c.1630C>T
  • NM_001408419.1:c.1630C>T
  • NM_001408420.1:c.1630C>T
  • NM_001408421.1:c.1627C>T
  • NM_001408422.1:c.1627C>T
  • NM_001408423.1:c.1627C>T
  • NM_001408424.1:c.1627C>T
  • NM_001408425.1:c.1624C>T
  • NM_001408426.1:c.1624C>T
  • NM_001408427.1:c.1624C>T
  • NM_001408428.1:c.1624C>T
  • NM_001408429.1:c.1624C>T
  • NM_001408430.1:c.1624C>T
  • NM_001408431.1:c.1624C>T
  • NM_001408432.1:c.1621C>T
  • NM_001408433.1:c.1621C>T
  • NM_001408434.1:c.1621C>T
  • NM_001408435.1:c.1621C>T
  • NM_001408436.1:c.1621C>T
  • NM_001408437.1:c.1621C>T
  • NM_001408438.1:c.1621C>T
  • NM_001408439.1:c.1621C>T
  • NM_001408440.1:c.1621C>T
  • NM_001408441.1:c.1621C>T
  • NM_001408442.1:c.1621C>T
  • NM_001408443.1:c.1621C>T
  • NM_001408444.1:c.1621C>T
  • NM_001408445.1:c.1618C>T
  • NM_001408446.1:c.1618C>T
  • NM_001408447.1:c.1618C>T
  • NM_001408448.1:c.1618C>T
  • NM_001408450.1:c.1618C>T
  • NM_001408451.1:c.1612C>T
  • NM_001408452.1:c.1606C>T
  • NM_001408453.1:c.1606C>T
  • NM_001408454.1:c.1606C>T
  • NM_001408455.1:c.1606C>T
  • NM_001408456.1:c.1606C>T
  • NM_001408457.1:c.1606C>T
  • NM_001408458.1:c.1603C>T
  • NM_001408459.1:c.1603C>T
  • NM_001408460.1:c.1603C>T
  • NM_001408461.1:c.1603C>T
  • NM_001408462.1:c.1603C>T
  • NM_001408463.1:c.1603C>T
  • NM_001408464.1:c.1603C>T
  • NM_001408465.1:c.1603C>T
  • NM_001408466.1:c.1603C>T
  • NM_001408467.1:c.1603C>T
  • NM_001408468.1:c.1600C>T
  • NM_001408469.1:c.1600C>T
  • NM_001408470.1:c.1600C>T
  • NM_001408472.1:c.1744C>T
  • NM_001408473.1:c.1741C>T
  • NM_001408474.1:c.1546C>T
  • NM_001408475.1:c.1543C>T
  • NM_001408476.1:c.1543C>T
  • NM_001408478.1:c.1537C>T
  • NM_001408479.1:c.1537C>T
  • NM_001408480.1:c.1537C>T
  • NM_001408481.1:c.1534C>T
  • NM_001408482.1:c.1534C>T
  • NM_001408483.1:c.1534C>T
  • NM_001408484.1:c.1534C>T
  • NM_001408485.1:c.1534C>T
  • NM_001408489.1:c.1534C>T
  • NM_001408490.1:c.1534C>T
  • NM_001408491.1:c.1534C>T
  • NM_001408492.1:c.1531C>T
  • NM_001408493.1:c.1531C>T
  • NM_001408494.1:c.1507C>T
  • NM_001408495.1:c.1501C>T
  • NM_001408496.1:c.1483C>T
  • NM_001408497.1:c.1483C>T
  • NM_001408498.1:c.1483C>T
  • NM_001408499.1:c.1483C>T
  • NM_001408500.1:c.1483C>T
  • NM_001408501.1:c.1483C>T
  • NM_001408502.1:c.1480C>T
  • NM_001408503.1:c.1480C>T
  • NM_001408504.1:c.1480C>T
  • NM_001408505.1:c.1477C>T
  • NM_001408506.1:c.1420C>T
  • NM_001408507.1:c.1417C>T
  • NM_001408508.1:c.1408C>T
  • NM_001408509.1:c.1405C>T
  • NM_001408510.1:c.1366C>T
  • NM_001408511.1:c.1363C>T
  • NM_001408512.1:c.1243C>T
  • NM_001408513.1:c.1216C>T
  • NM_007294.4:c.5056C>TMANE SELECT
  • NM_007297.4:c.4915C>T
  • NM_007298.4:c.1744C>T
  • NM_007299.4:c.1744C>T
  • NM_007300.4:c.5119C>T
  • NM_007304.2:c.1744C>T
  • NP_001394500.1:p.His1615Tyr
  • NP_001394510.1:p.His1708Tyr
  • NP_001394511.1:p.His1708Tyr
  • NP_001394512.1:p.His1707Tyr
  • NP_001394514.1:p.His1707Tyr
  • NP_001394516.1:p.His1707Tyr
  • NP_001394519.1:p.His1706Tyr
  • NP_001394520.1:p.His1706Tyr
  • NP_001394522.1:p.His1686Tyr
  • NP_001394523.1:p.His1686Tyr
  • NP_001394525.1:p.His1686Tyr
  • NP_001394526.1:p.His1686Tyr
  • NP_001394527.1:p.His1686Tyr
  • NP_001394531.1:p.His1686Tyr
  • NP_001394532.1:p.His1686Tyr
  • NP_001394534.1:p.His1686Tyr
  • NP_001394539.1:p.His1685Tyr
  • NP_001394540.1:p.His1685Tyr
  • NP_001394541.1:p.His1685Tyr
  • NP_001394542.1:p.His1685Tyr
  • NP_001394543.1:p.His1685Tyr
  • NP_001394544.1:p.His1685Tyr
  • NP_001394545.1:p.His1685Tyr
  • NP_001394546.1:p.His1685Tyr
  • NP_001394547.1:p.His1685Tyr
  • NP_001394548.1:p.His1685Tyr
  • NP_001394549.1:p.His1685Tyr
  • NP_001394550.1:p.His1685Tyr
  • NP_001394551.1:p.His1685Tyr
  • NP_001394552.1:p.His1685Tyr
  • NP_001394553.1:p.His1685Tyr
  • NP_001394554.1:p.His1685Tyr
  • NP_001394555.1:p.His1685Tyr
  • NP_001394556.1:p.His1684Tyr
  • NP_001394557.1:p.His1684Tyr
  • NP_001394558.1:p.His1684Tyr
  • NP_001394559.1:p.His1684Tyr
  • NP_001394560.1:p.His1684Tyr
  • NP_001394561.1:p.His1684Tyr
  • NP_001394562.1:p.His1684Tyr
  • NP_001394563.1:p.His1684Tyr
  • NP_001394564.1:p.His1684Tyr
  • NP_001394565.1:p.His1684Tyr
  • NP_001394566.1:p.His1684Tyr
  • NP_001394567.1:p.His1684Tyr
  • NP_001394568.1:p.His1684Tyr
  • NP_001394569.1:p.His1684Tyr
  • NP_001394570.1:p.His1684Tyr
  • NP_001394571.1:p.His1684Tyr
  • NP_001394573.1:p.His1683Tyr
  • NP_001394574.1:p.His1683Tyr
  • NP_001394575.1:p.His1682Tyr
  • NP_001394576.1:p.His1681Tyr
  • NP_001394577.1:p.His1667Tyr
  • NP_001394578.1:p.His1666Tyr
  • NP_001394581.1:p.His1686Tyr
  • NP_001394582.1:p.His1660Tyr
  • NP_001394583.1:p.His1660Tyr
  • NP_001394584.1:p.His1660Tyr
  • NP_001394585.1:p.His1659Tyr
  • NP_001394586.1:p.His1659Tyr
  • NP_001394587.1:p.His1659Tyr
  • NP_001394588.1:p.His1658Tyr
  • NP_001394589.1:p.His1658Tyr
  • NP_001394590.1:p.His1658Tyr
  • NP_001394591.1:p.His1658Tyr
  • NP_001394592.1:p.His1658Tyr
  • NP_001394593.1:p.His1645Tyr
  • NP_001394594.1:p.His1645Tyr
  • NP_001394595.1:p.His1645Tyr
  • NP_001394596.1:p.His1645Tyr
  • NP_001394597.1:p.His1645Tyr
  • NP_001394598.1:p.His1645Tyr
  • NP_001394599.1:p.His1644Tyr
  • NP_001394600.1:p.His1644Tyr
  • NP_001394601.1:p.His1644Tyr
  • NP_001394602.1:p.His1644Tyr
  • NP_001394603.1:p.His1644Tyr
  • NP_001394604.1:p.His1644Tyr
  • NP_001394605.1:p.His1644Tyr
  • NP_001394606.1:p.His1644Tyr
  • NP_001394607.1:p.His1644Tyr
  • NP_001394608.1:p.His1644Tyr
  • NP_001394609.1:p.His1644Tyr
  • NP_001394610.1:p.His1643Tyr
  • NP_001394611.1:p.His1643Tyr
  • NP_001394612.1:p.His1643Tyr
  • NP_001394613.1:p.His1686Tyr
  • NP_001394614.1:p.His1643Tyr
  • NP_001394615.1:p.His1643Tyr
  • NP_001394616.1:p.His1643Tyr
  • NP_001394617.1:p.His1643Tyr
  • NP_001394618.1:p.His1643Tyr
  • NP_001394619.1:p.His1642Tyr
  • NP_001394620.1:p.His1642Tyr
  • NP_001394621.1:p.His1639Tyr
  • NP_001394623.1:p.His1639Tyr
  • NP_001394624.1:p.His1639Tyr
  • NP_001394625.1:p.His1639Tyr
  • NP_001394626.1:p.His1639Tyr
  • NP_001394627.1:p.His1639Tyr
  • NP_001394653.1:p.His1639Tyr
  • NP_001394654.1:p.His1639Tyr
  • NP_001394655.1:p.His1639Tyr
  • NP_001394656.1:p.His1639Tyr
  • NP_001394657.1:p.His1639Tyr
  • NP_001394658.1:p.His1639Tyr
  • NP_001394659.1:p.His1639Tyr
  • NP_001394660.1:p.His1639Tyr
  • NP_001394661.1:p.His1638Tyr
  • NP_001394662.1:p.His1638Tyr
  • NP_001394663.1:p.His1638Tyr
  • NP_001394664.1:p.His1638Tyr
  • NP_001394665.1:p.His1638Tyr
  • NP_001394666.1:p.His1638Tyr
  • NP_001394667.1:p.His1638Tyr
  • NP_001394668.1:p.His1638Tyr
  • NP_001394669.1:p.His1638Tyr
  • NP_001394670.1:p.His1638Tyr
  • NP_001394671.1:p.His1638Tyr
  • NP_001394672.1:p.His1638Tyr
  • NP_001394673.1:p.His1638Tyr
  • NP_001394674.1:p.His1638Tyr
  • NP_001394675.1:p.His1638Tyr
  • NP_001394676.1:p.His1638Tyr
  • NP_001394677.1:p.His1638Tyr
  • NP_001394678.1:p.His1638Tyr
  • NP_001394679.1:p.His1638Tyr
  • NP_001394680.1:p.His1638Tyr
  • NP_001394681.1:p.His1638Tyr
  • NP_001394767.1:p.His1637Tyr
  • NP_001394768.1:p.His1637Tyr
  • NP_001394770.1:p.His1637Tyr
  • NP_001394771.1:p.His1637Tyr
  • NP_001394772.1:p.His1637Tyr
  • NP_001394773.1:p.His1637Tyr
  • NP_001394774.1:p.His1637Tyr
  • NP_001394775.1:p.His1637Tyr
  • NP_001394776.1:p.His1637Tyr
  • NP_001394777.1:p.His1637Tyr
  • NP_001394778.1:p.His1637Tyr
  • NP_001394779.1:p.His1637Tyr
  • NP_001394780.1:p.His1637Tyr
  • NP_001394781.1:p.His1637Tyr
  • NP_001394782.1:p.His1637Tyr
  • NP_001394783.1:p.His1686Tyr
  • NP_001394787.1:p.His1685Tyr
  • NP_001394788.1:p.His1685Tyr
  • NP_001394789.1:p.His1685Tyr
  • NP_001394790.1:p.His1684Tyr
  • NP_001394791.1:p.His1619Tyr
  • NP_001394792.1:p.His1644Tyr
  • NP_001394803.1:p.His1617Tyr
  • NP_001394804.1:p.His1617Tyr
  • NP_001394808.1:p.His1616Tyr
  • NP_001394810.1:p.His1616Tyr
  • NP_001394811.1:p.His1616Tyr
  • NP_001394813.1:p.His1616Tyr
  • NP_001394814.1:p.His1616Tyr
  • NP_001394815.1:p.His1616Tyr
  • NP_001394816.1:p.His1616Tyr
  • NP_001394818.1:p.His1616Tyr
  • NP_001394823.1:p.His1615Tyr
  • NP_001394824.1:p.His1615Tyr
  • NP_001394825.1:p.His1615Tyr
  • NP_001394826.1:p.His1615Tyr
  • NP_001394827.1:p.His1615Tyr
  • NP_001394828.1:p.His1615Tyr
  • NP_001394829.1:p.His1615Tyr
  • NP_001394831.1:p.His1615Tyr
  • NP_001394833.1:p.His1615Tyr
  • NP_001394835.1:p.His1615Tyr
  • NP_001394836.1:p.His1615Tyr
  • NP_001394837.1:p.His1615Tyr
  • NP_001394838.1:p.His1615Tyr
  • NP_001394839.1:p.His1615Tyr
  • NP_001394844.1:p.His1614Tyr
  • NP_001394845.1:p.His1614Tyr
  • NP_001394846.1:p.His1614Tyr
  • NP_001394847.1:p.His1614Tyr
  • NP_001394848.1:p.His1645Tyr
  • NP_001394849.1:p.His1598Tyr
  • NP_001394850.1:p.His1598Tyr
  • NP_001394851.1:p.His1598Tyr
  • NP_001394852.1:p.His1598Tyr
  • NP_001394853.1:p.His1598Tyr
  • NP_001394854.1:p.His1598Tyr
  • NP_001394855.1:p.His1598Tyr
  • NP_001394856.1:p.His1597Tyr
  • NP_001394857.1:p.His1597Tyr
  • NP_001394858.1:p.His1597Tyr
  • NP_001394859.1:p.His1597Tyr
  • NP_001394860.1:p.His1597Tyr
  • NP_001394861.1:p.His1597Tyr
  • NP_001394862.1:p.His1597Tyr
  • NP_001394863.1:p.His1596Tyr
  • NP_001394864.1:p.His1596Tyr
  • NP_001394865.1:p.His1596Tyr
  • NP_001394866.1:p.His1645Tyr
  • NP_001394867.1:p.His1645Tyr
  • NP_001394868.1:p.His1644Tyr
  • NP_001394869.1:p.His1644Tyr
  • NP_001394870.1:p.His1643Tyr
  • NP_001394871.1:p.His1639Tyr
  • NP_001394872.1:p.His1638Tyr
  • NP_001394873.1:p.His1638Tyr
  • NP_001394874.1:p.His1638Tyr
  • NP_001394875.1:p.His1575Tyr
  • NP_001394876.1:p.His1575Tyr
  • NP_001394877.1:p.His1575Tyr
  • NP_001394878.1:p.His1575Tyr
  • NP_001394879.1:p.His1574Tyr
  • NP_001394880.1:p.His1574Tyr
  • NP_001394881.1:p.His1574Tyr
  • NP_001394882.1:p.His1574Tyr
  • NP_001394883.1:p.His1574Tyr
  • NP_001394884.1:p.His1574Tyr
  • NP_001394885.1:p.His1573Tyr
  • NP_001394886.1:p.His1573Tyr
  • NP_001394887.1:p.His1573Tyr
  • NP_001394888.1:p.His1559Tyr
  • NP_001394889.1:p.His1558Tyr
  • NP_001394891.1:p.His1558Tyr
  • NP_001394892.1:p.His1557Tyr
  • NP_001394893.1:p.His1532Tyr
  • NP_001394894.1:p.His1517Tyr
  • NP_001394895.1:p.His1390Tyr
  • NP_001394896.1:p.His1389Tyr
  • NP_001394897.1:p.His818Tyr
  • NP_001394898.1:p.His817Tyr
  • NP_001394899.1:p.His605Tyr
  • NP_001394900.1:p.His605Tyr
  • NP_001394901.1:p.His604Tyr
  • NP_001394902.1:p.His583Tyr
  • NP_001394903.1:p.His583Tyr
  • NP_001394904.1:p.His583Tyr
  • NP_001394905.1:p.His583Tyr
  • NP_001394906.1:p.His583Tyr
  • NP_001394907.1:p.His583Tyr
  • NP_001394908.1:p.His582Tyr
  • NP_001394909.1:p.His582Tyr
  • NP_001394910.1:p.His582Tyr
  • NP_001394911.1:p.His582Tyr
  • NP_001394912.1:p.His582Tyr
  • NP_001394913.1:p.His582Tyr
  • NP_001394914.1:p.His582Tyr
  • NP_001394915.1:p.His582Tyr
  • NP_001394919.1:p.His582Tyr
  • NP_001394920.1:p.His582Tyr
  • NP_001394921.1:p.His582Tyr
  • NP_001394922.1:p.His582Tyr
  • NP_001395321.1:p.His581Tyr
  • NP_001395325.1:p.His581Tyr
  • NP_001395326.1:p.His581Tyr
  • NP_001395327.1:p.His581Tyr
  • NP_001395328.1:p.His581Tyr
  • NP_001395329.1:p.His581Tyr
  • NP_001395330.1:p.His581Tyr
  • NP_001395331.1:p.His581Tyr
  • NP_001395332.1:p.His581Tyr
  • NP_001395333.1:p.His581Tyr
  • NP_001395335.1:p.His580Tyr
  • NP_001395336.1:p.His580Tyr
  • NP_001395337.1:p.His580Tyr
  • NP_001395338.1:p.His579Tyr
  • NP_001395339.1:p.His558Tyr
  • NP_001395340.1:p.His557Tyr
  • NP_001395341.1:p.His556Tyr
  • NP_001395342.1:p.His556Tyr
  • NP_001395343.1:p.His556Tyr
  • NP_001395344.1:p.His556Tyr
  • NP_001395345.1:p.His556Tyr
  • NP_001395347.1:p.His544Tyr
  • NP_001395348.1:p.His544Tyr
  • NP_001395349.1:p.His544Tyr
  • NP_001395350.1:p.His543Tyr
  • NP_001395351.1:p.His543Tyr
  • NP_001395352.1:p.His543Tyr
  • NP_001395353.1:p.His543Tyr
  • NP_001395354.1:p.His542Tyr
  • NP_001395355.1:p.His542Tyr
  • NP_001395356.1:p.His542Tyr
  • NP_001395357.1:p.His542Tyr
  • NP_001395358.1:p.His542Tyr
  • NP_001395359.1:p.His542Tyr
  • NP_001395360.1:p.His542Tyr
  • NP_001395361.1:p.His541Tyr
  • NP_001395362.1:p.His541Tyr
  • NP_001395363.1:p.His541Tyr
  • NP_001395364.1:p.His541Tyr
  • NP_001395365.1:p.His541Tyr
  • NP_001395366.1:p.His541Tyr
  • NP_001395367.1:p.His541Tyr
  • NP_001395368.1:p.His541Tyr
  • NP_001395369.1:p.His541Tyr
  • NP_001395370.1:p.His541Tyr
  • NP_001395371.1:p.His541Tyr
  • NP_001395372.1:p.His541Tyr
  • NP_001395373.1:p.His541Tyr
  • NP_001395374.1:p.His540Tyr
  • NP_001395375.1:p.His540Tyr
  • NP_001395376.1:p.His540Tyr
  • NP_001395377.1:p.His540Tyr
  • NP_001395379.1:p.His540Tyr
  • NP_001395380.1:p.His538Tyr
  • NP_001395381.1:p.His536Tyr
  • NP_001395382.1:p.His536Tyr
  • NP_001395383.1:p.His536Tyr
  • NP_001395384.1:p.His536Tyr
  • NP_001395385.1:p.His536Tyr
  • NP_001395386.1:p.His536Tyr
  • NP_001395387.1:p.His535Tyr
  • NP_001395388.1:p.His535Tyr
  • NP_001395389.1:p.His535Tyr
  • NP_001395390.1:p.His535Tyr
  • NP_001395391.1:p.His535Tyr
  • NP_001395392.1:p.His535Tyr
  • NP_001395393.1:p.His535Tyr
  • NP_001395394.1:p.His535Tyr
  • NP_001395395.1:p.His535Tyr
  • NP_001395396.1:p.His535Tyr
  • NP_001395397.1:p.His534Tyr
  • NP_001395398.1:p.His534Tyr
  • NP_001395399.1:p.His534Tyr
  • NP_001395401.1:p.His582Tyr
  • NP_001395402.1:p.His581Tyr
  • NP_001395403.1:p.His516Tyr
  • NP_001395404.1:p.His515Tyr
  • NP_001395405.1:p.His515Tyr
  • NP_001395407.1:p.His513Tyr
  • NP_001395408.1:p.His513Tyr
  • NP_001395409.1:p.His513Tyr
  • NP_001395410.1:p.His512Tyr
  • NP_001395411.1:p.His512Tyr
  • NP_001395412.1:p.His512Tyr
  • NP_001395413.1:p.His512Tyr
  • NP_001395414.1:p.His512Tyr
  • NP_001395418.1:p.His512Tyr
  • NP_001395419.1:p.His512Tyr
  • NP_001395420.1:p.His512Tyr
  • NP_001395421.1:p.His511Tyr
  • NP_001395422.1:p.His511Tyr
  • NP_001395423.1:p.His503Tyr
  • NP_001395424.1:p.His501Tyr
  • NP_001395425.1:p.His495Tyr
  • NP_001395426.1:p.His495Tyr
  • NP_001395427.1:p.His495Tyr
  • NP_001395428.1:p.His495Tyr
  • NP_001395429.1:p.His495Tyr
  • NP_001395430.1:p.His495Tyr
  • NP_001395431.1:p.His494Tyr
  • NP_001395432.1:p.His494Tyr
  • NP_001395433.1:p.His494Tyr
  • NP_001395434.1:p.His493Tyr
  • NP_001395435.1:p.His474Tyr
  • NP_001395436.1:p.His473Tyr
  • NP_001395437.1:p.His470Tyr
  • NP_001395438.1:p.His469Tyr
  • NP_001395439.1:p.His456Tyr
  • NP_001395440.1:p.His455Tyr
  • NP_001395441.1:p.His415Tyr
  • NP_001395442.1:p.His406Tyr
  • NP_009225.1:p.His1686Tyr
  • NP_009225.1:p.His1686Tyr
  • NP_009228.2:p.His1639Tyr
  • NP_009229.2:p.His582Tyr
  • NP_009229.2:p.His582Tyr
  • NP_009230.2:p.His582Tyr
  • NP_009231.2:p.His1707Tyr
  • NP_009235.2:p.His582Tyr
  • LRG_292t1:c.5056C>T
  • LRG_292:g.150358C>T
  • LRG_292p1:p.His1686Tyr
  • NC_000017.10:g.41219643G>A
  • NM_007294.3:c.5056C>T
  • NM_007298.3:c.1744C>T
  • NR_027676.2:n.5233C>T
Protein change:
H1389Y
Links:
dbSNP: rs1555579648
NCBI 1000 Genomes Browser:
rs1555579648
Molecular consequence:
  • NM_001407571.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5122C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5122C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5044C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5041C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4999C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4996C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4978C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4978C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4978C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4972C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4972C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4972C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4972C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4972C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4924C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4924C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4909C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5050C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4855C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4849C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4849C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4843C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4840C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4840C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4840C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4840C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4786C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4786C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4786C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4933C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4723C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4723C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4723C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4723C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4717C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4717C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4717C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4672C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4672C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4669C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4594C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4549C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2449C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1735C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1672C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1669C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1627C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1627C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1627C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1627C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1612C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1600C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1600C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1600C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1546C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1543C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1543C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1537C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1537C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1537C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1534C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1531C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1531C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1507C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1501C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1483C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1480C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1480C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1480C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1420C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1417C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1405C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1366C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1363C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4915C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5233C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001353312Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 9, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

Williams RS, Lee MS, Hau DD, Glover JN.

Nat Struct Mol Biol. 2004 Jun;11(6):519-25. Epub 2004 May 9.

PubMed [citation]
PMID:
15133503

Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

Giannini G, Capalbo C, Ottini L, Buffone A, De Marchis L, Margaria E, Vitolo D, Ricevuto E, Rinaldi C, Zani M, Ferraro S, Marchetti P, Cortesi E, Frati L, Screpanti I, Gulino A.

J Clin Oncol. 2008 Sep 1;26(25):4212-4; author reply 4214-5. doi: 10.1200/JCO.2008.18.2089. No abstract available.

PubMed [citation]
PMID:
18757339
See all PubMed Citations (5)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001353312.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This missense variant replaces a conserved histidine with tyrosine at codon 1686 in the BRCT domain of the BRCA1 protein (PMID: 15133503, 18757339). Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant impacts BRCA1 function in haploid cell proliferation in the presence and absence of PARP inhibitor and in a homology-directed DNA repair assay (PMID: 30209399, 31467430). To our knowledge, this variant has not been reported in individuals affected with BRCA1-related disorders in the literature. Different missense variants at this codon, p.His1686Gln and p.His1686Arg, have been reported as disease-causing in ClinVar (variation ID: 55366, 183179). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may be associated with disease, additional clinical studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024