NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 19, 2021
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:: RCV000120270.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)]

NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)

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.1427A>G (p.His476Arg)

Other names:

p.H476R:CAT>CGT; NP_009225.1:p.His476Arg

HGVS:

NC_000017.11:g.43094104T>C
NG_005905.2:g.123880A>G
NM_001407571.1:c.1214A>G
NM_001407581.1:c.1427A>G
NM_001407582.1:c.1427A>G
NM_001407583.1:c.1427A>G
NM_001407585.1:c.1427A>G
NM_001407587.1:c.1424A>G
NM_001407590.1:c.1424A>G
NM_001407591.1:c.1424A>G
NM_001407593.1:c.1427A>G
NM_001407594.1:c.1427A>G
NM_001407596.1:c.1427A>G
NM_001407597.1:c.1427A>G
NM_001407598.1:c.1427A>G
NM_001407602.1:c.1427A>G
NM_001407603.1:c.1427A>G
NM_001407605.1:c.1427A>G
NM_001407610.1:c.1424A>G
NM_001407611.1:c.1424A>G
NM_001407612.1:c.1424A>G
NM_001407613.1:c.1424A>G
NM_001407614.1:c.1424A>G
NM_001407615.1:c.1424A>G
NM_001407616.1:c.1427A>G
NM_001407617.1:c.1427A>G
NM_001407618.1:c.1427A>G
NM_001407619.1:c.1427A>G
NM_001407620.1:c.1427A>G
NM_001407621.1:c.1427A>G
NM_001407622.1:c.1427A>G
NM_001407623.1:c.1427A>G
NM_001407624.1:c.1427A>G
NM_001407625.1:c.1427A>G
NM_001407626.1:c.1427A>G
NM_001407627.1:c.1424A>G
NM_001407628.1:c.1424A>G
NM_001407629.1:c.1424A>G
NM_001407630.1:c.1424A>G
NM_001407631.1:c.1424A>G
NM_001407632.1:c.1424A>G
NM_001407633.1:c.1424A>G
NM_001407634.1:c.1424A>G
NM_001407635.1:c.1424A>G
NM_001407636.1:c.1424A>G
NM_001407637.1:c.1424A>G
NM_001407638.1:c.1424A>G
NM_001407639.1:c.1427A>G
NM_001407640.1:c.1427A>G
NM_001407641.1:c.1427A>G
NM_001407642.1:c.1427A>G
NM_001407644.1:c.1424A>G
NM_001407645.1:c.1424A>G
NM_001407646.1:c.1418A>G
NM_001407647.1:c.1418A>G
NM_001407648.1:c.1304A>G
NM_001407649.1:c.1301A>G
NM_001407652.1:c.1427A>G
NM_001407653.1:c.1349A>G
NM_001407654.1:c.1349A>G
NM_001407655.1:c.1349A>G
NM_001407656.1:c.1349A>G
NM_001407657.1:c.1349A>G
NM_001407658.1:c.1349A>G
NM_001407659.1:c.1346A>G
NM_001407660.1:c.1346A>G
NM_001407661.1:c.1346A>G
NM_001407662.1:c.1346A>G
NM_001407663.1:c.1349A>G
NM_001407664.1:c.1304A>G
NM_001407665.1:c.1304A>G
NM_001407666.1:c.1304A>G
NM_001407667.1:c.1304A>G
NM_001407668.1:c.1304A>G
NM_001407669.1:c.1304A>G
NM_001407670.1:c.1301A>G
NM_001407671.1:c.1301A>G
NM_001407672.1:c.1301A>G
NM_001407673.1:c.1301A>G
NM_001407674.1:c.1304A>G
NM_001407675.1:c.1304A>G
NM_001407676.1:c.1304A>G
NM_001407677.1:c.1304A>G
NM_001407678.1:c.1304A>G
NM_001407679.1:c.1304A>G
NM_001407680.1:c.1304A>G
NM_001407681.1:c.1304A>G
NM_001407682.1:c.1304A>G
NM_001407683.1:c.1304A>G
NM_001407684.1:c.1427A>G
NM_001407685.1:c.1301A>G
NM_001407686.1:c.1301A>G
NM_001407687.1:c.1301A>G
NM_001407688.1:c.1301A>G
NM_001407689.1:c.1301A>G
NM_001407690.1:c.1301A>G
NM_001407691.1:c.1301A>G
NM_001407692.1:c.1286A>G
NM_001407694.1:c.1286A>G
NM_001407695.1:c.1286A>G
NM_001407696.1:c.1286A>G
NM_001407697.1:c.1286A>G
NM_001407698.1:c.1286A>G
NM_001407724.1:c.1286A>G
NM_001407725.1:c.1286A>G
NM_001407726.1:c.1286A>G
NM_001407727.1:c.1286A>G
NM_001407728.1:c.1286A>G
NM_001407729.1:c.1286A>G
NM_001407730.1:c.1286A>G
NM_001407731.1:c.1286A>G
NM_001407732.1:c.1286A>G
NM_001407733.1:c.1286A>G
NM_001407734.1:c.1286A>G
NM_001407735.1:c.1286A>G
NM_001407736.1:c.1286A>G
NM_001407737.1:c.1286A>G
NM_001407738.1:c.1286A>G
NM_001407739.1:c.1286A>G
NM_001407740.1:c.1283A>G
NM_001407741.1:c.1283A>G
NM_001407742.1:c.1283A>G
NM_001407743.1:c.1283A>G
NM_001407744.1:c.1283A>G
NM_001407745.1:c.1283A>G
NM_001407746.1:c.1283A>G
NM_001407747.1:c.1283A>G
NM_001407748.1:c.1283A>G
NM_001407749.1:c.1283A>G
NM_001407750.1:c.1286A>G
NM_001407751.1:c.1286A>G
NM_001407752.1:c.1286A>G
NM_001407838.1:c.1283A>G
NM_001407839.1:c.1283A>G
NM_001407841.1:c.1283A>G
NM_001407842.1:c.1283A>G
NM_001407843.1:c.1283A>G
NM_001407844.1:c.1283A>G
NM_001407845.1:c.1283A>G
NM_001407846.1:c.1283A>G
NM_001407847.1:c.1283A>G
NM_001407848.1:c.1283A>G
NM_001407849.1:c.1283A>G
NM_001407850.1:c.1286A>G
NM_001407851.1:c.1286A>G
NM_001407852.1:c.1286A>G
NM_001407853.1:c.1214A>G
NM_001407854.1:c.1427A>G
NM_001407858.1:c.1427A>G
NM_001407859.1:c.1427A>G
NM_001407860.1:c.1424A>G
NM_001407861.1:c.1424A>G
NM_001407862.1:c.1226A>G
NM_001407863.1:c.1304A>G
NM_001407874.1:c.1223A>G
NM_001407875.1:c.1223A>G
NM_001407879.1:c.1217A>G
NM_001407881.1:c.1217A>G
NM_001407882.1:c.1217A>G
NM_001407884.1:c.1217A>G
NM_001407885.1:c.1217A>G
NM_001407886.1:c.1217A>G
NM_001407887.1:c.1217A>G
NM_001407889.1:c.1217A>G
NM_001407894.1:c.1214A>G
NM_001407895.1:c.1214A>G
NM_001407896.1:c.1214A>G
NM_001407897.1:c.1214A>G
NM_001407898.1:c.1214A>G
NM_001407899.1:c.1214A>G
NM_001407900.1:c.1217A>G
NM_001407902.1:c.1217A>G
NM_001407904.1:c.1217A>G
NM_001407906.1:c.1217A>G
NM_001407907.1:c.1217A>G
NM_001407908.1:c.1217A>G
NM_001407909.1:c.1217A>G
NM_001407910.1:c.1217A>G
NM_001407915.1:c.1214A>G
NM_001407916.1:c.1214A>G
NM_001407917.1:c.1214A>G
NM_001407918.1:c.1214A>G
NM_001407919.1:c.1304A>G
NM_001407920.1:c.1163A>G
NM_001407921.1:c.1163A>G
NM_001407922.1:c.1163A>G
NM_001407923.1:c.1163A>G
NM_001407924.1:c.1163A>G
NM_001407925.1:c.1163A>G
NM_001407926.1:c.1163A>G
NM_001407927.1:c.1163A>G
NM_001407928.1:c.1163A>G
NM_001407929.1:c.1163A>G
NM_001407930.1:c.1160A>G
NM_001407931.1:c.1160A>G
NM_001407932.1:c.1160A>G
NM_001407933.1:c.1163A>G
NM_001407934.1:c.1160A>G
NM_001407935.1:c.1163A>G
NM_001407936.1:c.1160A>G
NM_001407937.1:c.1304A>G
NM_001407938.1:c.1304A>G
NM_001407939.1:c.1304A>G
NM_001407940.1:c.1301A>G
NM_001407941.1:c.1301A>G
NM_001407942.1:c.1286A>G
NM_001407943.1:c.1283A>G
NM_001407944.1:c.1286A>G
NM_001407945.1:c.1286A>G
NM_001407946.1:c.1094A>G
NM_001407947.1:c.1094A>G
NM_001407948.1:c.1094A>G
NM_001407949.1:c.1094A>G
NM_001407950.1:c.1094A>G
NM_001407951.1:c.1094A>G
NM_001407952.1:c.1094A>G
NM_001407953.1:c.1094A>G
NM_001407954.1:c.1091A>G
NM_001407955.1:c.1091A>G
NM_001407956.1:c.1091A>G
NM_001407957.1:c.1094A>G
NM_001407958.1:c.1091A>G
NM_001407959.1:c.1046A>G
NM_001407960.1:c.1046A>G
NM_001407962.1:c.1043A>G
NM_001407963.1:c.1046A>G
NM_001407964.1:c.1283A>G
NM_001407965.1:c.923A>G
NM_001407966.1:c.539A>G
NM_001407967.1:c.539A>G
NM_001407968.1:c.787+640A>G
NM_001407969.1:c.787+640A>G
NM_001407970.1:c.787+640A>G
NM_001407971.1:c.787+640A>G
NM_001407972.1:c.784+640A>G
NM_001407973.1:c.787+640A>G
NM_001407974.1:c.787+640A>G
NM_001407975.1:c.787+640A>G
NM_001407976.1:c.787+640A>G
NM_001407977.1:c.787+640A>G
NM_001407978.1:c.787+640A>G
NM_001407979.1:c.787+640A>G
NM_001407980.1:c.787+640A>G
NM_001407981.1:c.787+640A>G
NM_001407982.1:c.787+640A>G
NM_001407983.1:c.787+640A>G
NM_001407984.1:c.784+640A>G
NM_001407985.1:c.784+640A>G
NM_001407986.1:c.784+640A>G
NM_001407990.1:c.787+640A>G
NM_001407991.1:c.784+640A>G
NM_001407992.1:c.784+640A>G
NM_001407993.1:c.787+640A>G
NM_001408392.1:c.784+640A>G
NM_001408396.1:c.784+640A>G
NM_001408397.1:c.784+640A>G
NM_001408398.1:c.784+640A>G
NM_001408399.1:c.784+640A>G
NM_001408400.1:c.784+640A>G
NM_001408401.1:c.784+640A>G
NM_001408402.1:c.784+640A>G
NM_001408403.1:c.787+640A>G
NM_001408404.1:c.787+640A>G
NM_001408406.1:c.790+637A>G
NM_001408407.1:c.784+640A>G
NM_001408408.1:c.778+640A>G
NM_001408409.1:c.709+640A>G
NM_001408410.1:c.646+640A>G
NM_001408411.1:c.709+640A>G
NM_001408412.1:c.709+640A>G
NM_001408413.1:c.706+640A>G
NM_001408414.1:c.709+640A>G
NM_001408415.1:c.709+640A>G
NM_001408416.1:c.706+640A>G
NM_001408418.1:c.670+1742A>G
NM_001408419.1:c.670+1742A>G
NM_001408420.1:c.670+1742A>G
NM_001408421.1:c.667+1742A>G
NM_001408422.1:c.670+1742A>G
NM_001408423.1:c.670+1742A>G
NM_001408424.1:c.667+1742A>G
NM_001408425.1:c.664+640A>G
NM_001408426.1:c.664+640A>G
NM_001408427.1:c.664+640A>G
NM_001408428.1:c.664+640A>G
NM_001408429.1:c.664+640A>G
NM_001408430.1:c.664+640A>G
NM_001408431.1:c.667+1742A>G
NM_001408432.1:c.661+640A>G
NM_001408433.1:c.661+640A>G
NM_001408434.1:c.661+640A>G
NM_001408435.1:c.661+640A>G
NM_001408436.1:c.664+640A>G
NM_001408437.1:c.664+640A>G
NM_001408438.1:c.664+640A>G
NM_001408439.1:c.664+640A>G
NM_001408440.1:c.664+640A>G
NM_001408441.1:c.664+640A>G
NM_001408442.1:c.664+640A>G
NM_001408443.1:c.664+640A>G
NM_001408444.1:c.664+640A>G
NM_001408445.1:c.661+640A>G
NM_001408446.1:c.661+640A>G
NM_001408447.1:c.661+640A>G
NM_001408448.1:c.661+640A>G
NM_001408450.1:c.661+640A>G
NM_001408451.1:c.652+640A>G
NM_001408452.1:c.646+640A>G
NM_001408453.1:c.646+640A>G
NM_001408454.1:c.646+640A>G
NM_001408455.1:c.646+640A>G
NM_001408456.1:c.646+640A>G
NM_001408457.1:c.646+640A>G
NM_001408458.1:c.646+640A>G
NM_001408459.1:c.646+640A>G
NM_001408460.1:c.646+640A>G
NM_001408461.1:c.646+640A>G
NM_001408462.1:c.643+640A>G
NM_001408463.1:c.643+640A>G
NM_001408464.1:c.643+640A>G
NM_001408465.1:c.643+640A>G
NM_001408466.1:c.646+640A>G
NM_001408467.1:c.646+640A>G
NM_001408468.1:c.643+640A>G
NM_001408469.1:c.646+640A>G
NM_001408470.1:c.643+640A>G
NM_001408472.1:c.787+640A>G
NM_001408473.1:c.784+640A>G
NM_001408474.1:c.586+640A>G
NM_001408475.1:c.583+640A>G
NM_001408476.1:c.586+640A>G
NM_001408478.1:c.577+640A>G
NM_001408479.1:c.577+640A>G
NM_001408480.1:c.577+640A>G
NM_001408481.1:c.577+640A>G
NM_001408482.1:c.577+640A>G
NM_001408483.1:c.577+640A>G
NM_001408484.1:c.577+640A>G
NM_001408485.1:c.577+640A>G
NM_001408489.1:c.577+640A>G
NM_001408490.1:c.574+640A>G
NM_001408491.1:c.574+640A>G
NM_001408492.1:c.577+640A>G
NM_001408493.1:c.574+640A>G
NM_001408494.1:c.548-3072A>G
NM_001408495.1:c.545-3072A>G
NM_001408496.1:c.523+640A>G
NM_001408497.1:c.523+640A>G
NM_001408498.1:c.523+640A>G
NM_001408499.1:c.523+640A>G
NM_001408500.1:c.523+640A>G
NM_001408501.1:c.523+640A>G
NM_001408502.1:c.454+640A>G
NM_001408503.1:c.520+640A>G
NM_001408504.1:c.520+640A>G
NM_001408505.1:c.520+640A>G
NM_001408506.1:c.460+1742A>G
NM_001408507.1:c.460+1742A>G
NM_001408508.1:c.451+640A>G
NM_001408509.1:c.451+640A>G
NM_001408510.1:c.406+640A>G
NM_001408511.1:c.404-3072A>G
NM_001408512.1:c.283+640A>G
NM_001408513.1:c.577+640A>G
NM_001408514.1:c.577+640A>G
NM_007294.4:c.1427A>GMANE SELECT
NM_007297.4:c.1286A>G
NM_007298.4:c.787+640A>G
NM_007299.4:c.787+640A>G
NM_007300.4:c.1427A>G
NP_001394500.1:p.His405Arg
NP_001394510.1:p.His476Arg
NP_001394511.1:p.His476Arg
NP_001394512.1:p.His476Arg
NP_001394514.1:p.His476Arg
NP_001394516.1:p.His475Arg
NP_001394519.1:p.His475Arg
NP_001394520.1:p.His475Arg
NP_001394522.1:p.His476Arg
NP_001394523.1:p.His476Arg
NP_001394525.1:p.His476Arg
NP_001394526.1:p.His476Arg
NP_001394527.1:p.His476Arg
NP_001394531.1:p.His476Arg
NP_001394532.1:p.His476Arg
NP_001394534.1:p.His476Arg
NP_001394539.1:p.His475Arg
NP_001394540.1:p.His475Arg
NP_001394541.1:p.His475Arg
NP_001394542.1:p.His475Arg
NP_001394543.1:p.His475Arg
NP_001394544.1:p.His475Arg
NP_001394545.1:p.His476Arg
NP_001394546.1:p.His476Arg
NP_001394547.1:p.His476Arg
NP_001394548.1:p.His476Arg
NP_001394549.1:p.His476Arg
NP_001394550.1:p.His476Arg
NP_001394551.1:p.His476Arg
NP_001394552.1:p.His476Arg
NP_001394553.1:p.His476Arg
NP_001394554.1:p.His476Arg
NP_001394555.1:p.His476Arg
NP_001394556.1:p.His475Arg
NP_001394557.1:p.His475Arg
NP_001394558.1:p.His475Arg
NP_001394559.1:p.His475Arg
NP_001394560.1:p.His475Arg
NP_001394561.1:p.His475Arg
NP_001394562.1:p.His475Arg
NP_001394563.1:p.His475Arg
NP_001394564.1:p.His475Arg
NP_001394565.1:p.His475Arg
NP_001394566.1:p.His475Arg
NP_001394567.1:p.His475Arg
NP_001394568.1:p.His476Arg
NP_001394569.1:p.His476Arg
NP_001394570.1:p.His476Arg
NP_001394571.1:p.His476Arg
NP_001394573.1:p.His475Arg
NP_001394574.1:p.His475Arg
NP_001394575.1:p.His473Arg
NP_001394576.1:p.His473Arg
NP_001394577.1:p.His435Arg
NP_001394578.1:p.His434Arg
NP_001394581.1:p.His476Arg
NP_001394582.1:p.His450Arg
NP_001394583.1:p.His450Arg
NP_001394584.1:p.His450Arg
NP_001394585.1:p.His450Arg
NP_001394586.1:p.His450Arg
NP_001394587.1:p.His450Arg
NP_001394588.1:p.His449Arg
NP_001394589.1:p.His449Arg
NP_001394590.1:p.His449Arg
NP_001394591.1:p.His449Arg
NP_001394592.1:p.His450Arg
NP_001394593.1:p.His435Arg
NP_001394594.1:p.His435Arg
NP_001394595.1:p.His435Arg
NP_001394596.1:p.His435Arg
NP_001394597.1:p.His435Arg
NP_001394598.1:p.His435Arg
NP_001394599.1:p.His434Arg
NP_001394600.1:p.His434Arg
NP_001394601.1:p.His434Arg
NP_001394602.1:p.His434Arg
NP_001394603.1:p.His435Arg
NP_001394604.1:p.His435Arg
NP_001394605.1:p.His435Arg
NP_001394606.1:p.His435Arg
NP_001394607.1:p.His435Arg
NP_001394608.1:p.His435Arg
NP_001394609.1:p.His435Arg
NP_001394610.1:p.His435Arg
NP_001394611.1:p.His435Arg
NP_001394612.1:p.His435Arg
NP_001394613.1:p.His476Arg
NP_001394614.1:p.His434Arg
NP_001394615.1:p.His434Arg
NP_001394616.1:p.His434Arg
NP_001394617.1:p.His434Arg
NP_001394618.1:p.His434Arg
NP_001394619.1:p.His434Arg
NP_001394620.1:p.His434Arg
NP_001394621.1:p.His429Arg
NP_001394623.1:p.His429Arg
NP_001394624.1:p.His429Arg
NP_001394625.1:p.His429Arg
NP_001394626.1:p.His429Arg
NP_001394627.1:p.His429Arg
NP_001394653.1:p.His429Arg
NP_001394654.1:p.His429Arg
NP_001394655.1:p.His429Arg
NP_001394656.1:p.His429Arg
NP_001394657.1:p.His429Arg
NP_001394658.1:p.His429Arg
NP_001394659.1:p.His429Arg
NP_001394660.1:p.His429Arg
NP_001394661.1:p.His429Arg
NP_001394662.1:p.His429Arg
NP_001394663.1:p.His429Arg
NP_001394664.1:p.His429Arg
NP_001394665.1:p.His429Arg
NP_001394666.1:p.His429Arg
NP_001394667.1:p.His429Arg
NP_001394668.1:p.His429Arg
NP_001394669.1:p.His428Arg
NP_001394670.1:p.His428Arg
NP_001394671.1:p.His428Arg
NP_001394672.1:p.His428Arg
NP_001394673.1:p.His428Arg
NP_001394674.1:p.His428Arg
NP_001394675.1:p.His428Arg
NP_001394676.1:p.His428Arg
NP_001394677.1:p.His428Arg
NP_001394678.1:p.His428Arg
NP_001394679.1:p.His429Arg
NP_001394680.1:p.His429Arg
NP_001394681.1:p.His429Arg
NP_001394767.1:p.His428Arg
NP_001394768.1:p.His428Arg
NP_001394770.1:p.His428Arg
NP_001394771.1:p.His428Arg
NP_001394772.1:p.His428Arg
NP_001394773.1:p.His428Arg
NP_001394774.1:p.His428Arg
NP_001394775.1:p.His428Arg
NP_001394776.1:p.His428Arg
NP_001394777.1:p.His428Arg
NP_001394778.1:p.His428Arg
NP_001394779.1:p.His429Arg
NP_001394780.1:p.His429Arg
NP_001394781.1:p.His429Arg
NP_001394782.1:p.His405Arg
NP_001394783.1:p.His476Arg
NP_001394787.1:p.His476Arg
NP_001394788.1:p.His476Arg
NP_001394789.1:p.His475Arg
NP_001394790.1:p.His475Arg
NP_001394791.1:p.His409Arg
NP_001394792.1:p.His435Arg
NP_001394803.1:p.His408Arg
NP_001394804.1:p.His408Arg
NP_001394808.1:p.His406Arg
NP_001394810.1:p.His406Arg
NP_001394811.1:p.His406Arg
NP_001394813.1:p.His406Arg
NP_001394814.1:p.His406Arg
NP_001394815.1:p.His406Arg
NP_001394816.1:p.His406Arg
NP_001394818.1:p.His406Arg
NP_001394823.1:p.His405Arg
NP_001394824.1:p.His405Arg
NP_001394825.1:p.His405Arg
NP_001394826.1:p.His405Arg
NP_001394827.1:p.His405Arg
NP_001394828.1:p.His405Arg
NP_001394829.1:p.His406Arg
NP_001394831.1:p.His406Arg
NP_001394833.1:p.His406Arg
NP_001394835.1:p.His406Arg
NP_001394836.1:p.His406Arg
NP_001394837.1:p.His406Arg
NP_001394838.1:p.His406Arg
NP_001394839.1:p.His406Arg
NP_001394844.1:p.His405Arg
NP_001394845.1:p.His405Arg
NP_001394846.1:p.His405Arg
NP_001394847.1:p.His405Arg
NP_001394848.1:p.His435Arg
NP_001394849.1:p.His388Arg
NP_001394850.1:p.His388Arg
NP_001394851.1:p.His388Arg
NP_001394852.1:p.His388Arg
NP_001394853.1:p.His388Arg
NP_001394854.1:p.His388Arg
NP_001394855.1:p.His388Arg
NP_001394856.1:p.His388Arg
NP_001394857.1:p.His388Arg
NP_001394858.1:p.His388Arg
NP_001394859.1:p.His387Arg
NP_001394860.1:p.His387Arg
NP_001394861.1:p.His387Arg
NP_001394862.1:p.His388Arg
NP_001394863.1:p.His387Arg
NP_001394864.1:p.His388Arg
NP_001394865.1:p.His387Arg
NP_001394866.1:p.His435Arg
NP_001394867.1:p.His435Arg
NP_001394868.1:p.His435Arg
NP_001394869.1:p.His434Arg
NP_001394870.1:p.His434Arg
NP_001394871.1:p.His429Arg
NP_001394872.1:p.His428Arg
NP_001394873.1:p.His429Arg
NP_001394874.1:p.His429Arg
NP_001394875.1:p.His365Arg
NP_001394876.1:p.His365Arg
NP_001394877.1:p.His365Arg
NP_001394878.1:p.His365Arg
NP_001394879.1:p.His365Arg
NP_001394880.1:p.His365Arg
NP_001394881.1:p.His365Arg
NP_001394882.1:p.His365Arg
NP_001394883.1:p.His364Arg
NP_001394884.1:p.His364Arg
NP_001394885.1:p.His364Arg
NP_001394886.1:p.His365Arg
NP_001394887.1:p.His364Arg
NP_001394888.1:p.His349Arg
NP_001394889.1:p.His349Arg
NP_001394891.1:p.His348Arg
NP_001394892.1:p.His349Arg
NP_001394893.1:p.His428Arg
NP_001394894.1:p.His308Arg
NP_001394895.1:p.His180Arg
NP_001394896.1:p.His180Arg
NP_009225.1:p.His476Arg
NP_009225.1:p.His476Arg
NP_009228.2:p.His429Arg
NP_009231.2:p.His476Arg
LRG_292t1:c.1427A>G
LRG_292:g.123880A>G
LRG_292p1:p.His476Arg
NC_000017.10:g.41246121T>C
NM_007294.3:c.1427A>G
NM_007294.4:c.1427A>G
NR_027676.1:n.1563A>G
U14680.1:n.1546A>G
p.H476R

Protein change:

H180R

Links:

dbSNP: rs55720177

NCBI 1000 Genomes Browser:

rs55720177

Molecular consequence:

NM_001407968.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+637A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3072A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3072A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1742A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3072A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+640A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084422	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV002070489	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 19, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000084422

ITMI

no classification provided

not provided

germline

reference population

PubMed (1)
[See all records that cite this PMID]

SCV002070489

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 19, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From ITMI, SCV000084422.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0.0116	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV002070489.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine