NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000111616.9
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
This HGVS expression did not pass validation- 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]
- Observations:
- 50
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000144092 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (May 29, 2002) | germline | clinical testing | |
SCV000220997 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Likely benign (Dec 30, 2014) | unknown | literature only | PubMed (6) Counsyl Autosomal Dominant Disease Classification criteria (2015), |
SCV004818330 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely Benign (Feb 5, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | 42 | not provided | not provided | 108544 | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | literature only |
African | germline | yes | 5 | not provided | not provided | not provided | not provided | clinical testing |
African American | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.
J Med Genet. 2004 Jul;41(7):492-507.
PubMed [citation]
- PMID:
- 15235020
- PMCID:
- PMC1735826
Understanding missense mutations in the BRCA1 gene: an evolutionary approach.
Fleming MA, Potter JD, Ramirez CJ, Ostrander GK, Ostrander EA.
Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1151-6. Epub 2003 Jan 16.
PubMed [citation]
- PMID:
- 12531920
- PMCID:
- PMC298742
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144092.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 2 | not provided | not provided | clinical testing | not provided |
2 | African | 5 | not provided | not provided | clinical testing | not provided |
3 | African American | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 5 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Counsyl, SCV000220997.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | literature only | PubMed (6) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From All of Us Research Program, National Institutes of Health, SCV004818330.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 42 | 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 | unknown | 108544 | not provided | not provided | 42 | not provided | not provided | not provided |
Last Updated: Jul 15, 2024