ClinVar

NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43067608 (on Assembly GRCh38)
• Chr17: 41219625 (on Assembly GRCh37)

Preferred name:

NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)

HGVS:

• NC_000017.11:g.43067608C>G
• NG_005905.2:g.150376G>C
• NM_001407571.1:c.4861G>C
• NM_001407581.1:c.5140G>C
• NM_001407582.1:c.5140G>C
• NM_001407583.1:c.5137G>C
• NM_001407585.1:c.5137G>C
• NM_001407587.1:c.5137G>C
• NM_001407590.1:c.5134G>C
• NM_001407591.1:c.5134G>C
• NM_001407593.1:c.5074G>C
• NM_001407594.1:c.5074G>C
• NM_001407596.1:c.5074G>C
• NM_001407597.1:c.5074G>C
• NM_001407598.1:c.5074G>C
• NM_001407602.1:c.5074G>C
• NM_001407603.1:c.5074G>C
• NM_001407605.1:c.5074G>C
• NM_001407610.1:c.5071G>C
• NM_001407611.1:c.5071G>C
• NM_001407612.1:c.5071G>C
• NM_001407613.1:c.5071G>C
• NM_001407614.1:c.5071G>C
• NM_001407615.1:c.5071G>C
• NM_001407616.1:c.5071G>C
• NM_001407617.1:c.5071G>C
• NM_001407618.1:c.5071G>C
• NM_001407619.1:c.5071G>C
• NM_001407620.1:c.5071G>C
• NM_001407621.1:c.5071G>C
• NM_001407622.1:c.5071G>C
• NM_001407623.1:c.5071G>C
• NM_001407624.1:c.5071G>C
• NM_001407625.1:c.5071G>C
• NM_001407626.1:c.5071G>C
• NM_001407627.1:c.5068G>C
• NM_001407628.1:c.5068G>C
• NM_001407629.1:c.5068G>C
• NM_001407630.1:c.5068G>C
• NM_001407631.1:c.5068G>C
• NM_001407632.1:c.5068G>C
• NM_001407633.1:c.5068G>C
• NM_001407634.1:c.5068G>C
• NM_001407635.1:c.5068G>C
• NM_001407636.1:c.5068G>C
• NM_001407637.1:c.5068G>C
• NM_001407638.1:c.5068G>C
• NM_001407639.1:c.5068G>C
• NM_001407640.1:c.5068G>C
• NM_001407641.1:c.5068G>C
• NM_001407642.1:c.5068G>C
• NM_001407644.1:c.5065G>C
• NM_001407645.1:c.5065G>C
• NM_001407646.1:c.5062G>C
• NM_001407647.1:c.5059G>C
• NM_001407648.1:c.5017G>C
• NM_001407649.1:c.5014G>C
• NM_001407652.1:c.5074G>C
• NM_001407653.1:c.4996G>C
• NM_001407654.1:c.4996G>C
• NM_001407655.1:c.4996G>C
• NM_001407656.1:c.4993G>C
• NM_001407657.1:c.4993G>C
• NM_001407658.1:c.4993G>C
• NM_001407659.1:c.4990G>C
• NM_001407660.1:c.4990G>C
• NM_001407661.1:c.4990G>C
• NM_001407662.1:c.4990G>C
• NM_001407663.1:c.4990G>C
• NM_001407664.1:c.4951G>C
• NM_001407665.1:c.4951G>C
• NM_001407666.1:c.4951G>C
• NM_001407667.1:c.4951G>C
• NM_001407668.1:c.4951G>C
• NM_001407669.1:c.4951G>C
• NM_001407670.1:c.4948G>C
• NM_001407671.1:c.4948G>C
• NM_001407672.1:c.4948G>C
• NM_001407673.1:c.4948G>C
• NM_001407674.1:c.4948G>C
• NM_001407675.1:c.4948G>C
• NM_001407676.1:c.4948G>C
• NM_001407677.1:c.4948G>C
• NM_001407678.1:c.4948G>C
• NM_001407679.1:c.4948G>C
• NM_001407680.1:c.4948G>C
• NM_001407681.1:c.4945G>C
• NM_001407682.1:c.4945G>C
• NM_001407683.1:c.4945G>C
• NM_001407684.1:c.5074G>C
• NM_001407685.1:c.4945G>C
• NM_001407686.1:c.4945G>C
• NM_001407687.1:c.4945G>C
• NM_001407688.1:c.4945G>C
• NM_001407689.1:c.4945G>C
• NM_001407690.1:c.4942G>C
• NM_001407691.1:c.4942G>C
• NM_001407692.1:c.4933G>C
• NM_001407694.1:c.4933G>C
• NM_001407695.1:c.4933G>C
• NM_001407696.1:c.4933G>C
• NM_001407697.1:c.4933G>C
• NM_001407698.1:c.4933G>C
• NM_001407724.1:c.4933G>C
• NM_001407725.1:c.4933G>C
• NM_001407726.1:c.4933G>C
• NM_001407727.1:c.4933G>C
• NM_001407728.1:c.4933G>C
• NM_001407729.1:c.4933G>C
• NM_001407730.1:c.4933G>C
• NM_001407731.1:c.4933G>C
• NM_001407732.1:c.4930G>C
• NM_001407733.1:c.4930G>C
• NM_001407734.1:c.4930G>C
• NM_001407735.1:c.4930G>C
• NM_001407736.1:c.4930G>C
• NM_001407737.1:c.4930G>C
• NM_001407738.1:c.4930G>C
• NM_001407739.1:c.4930G>C
• NM_001407740.1:c.4930G>C
• NM_001407741.1:c.4930G>C
• NM_001407742.1:c.4930G>C
• NM_001407743.1:c.4930G>C
• NM_001407744.1:c.4930G>C
• NM_001407745.1:c.4930G>C
• NM_001407746.1:c.4930G>C
• NM_001407747.1:c.4930G>C
• NM_001407748.1:c.4930G>C
• NM_001407749.1:c.4930G>C
• NM_001407750.1:c.4930G>C
• NM_001407751.1:c.4930G>C
• NM_001407752.1:c.4930G>C
• NM_001407838.1:c.4927G>C
• NM_001407839.1:c.4927G>C
• NM_001407841.1:c.4927G>C
• NM_001407842.1:c.4927G>C
• NM_001407843.1:c.4927G>C
• NM_001407844.1:c.4927G>C
• NM_001407845.1:c.4927G>C
• NM_001407846.1:c.4927G>C
• NM_001407847.1:c.4927G>C
• NM_001407848.1:c.4927G>C
• NM_001407849.1:c.4927G>C
• NM_001407850.1:c.4927G>C
• NM_001407851.1:c.4927G>C
• NM_001407852.1:c.4927G>C
• NM_001407853.1:c.4927G>C
• NM_001407854.1:c.5074G>C
• NM_001407858.1:c.5071G>C
• NM_001407859.1:c.5071G>C
• NM_001407860.1:c.5071G>C
• NM_001407861.1:c.5068G>C
• NM_001407862.1:c.4873G>C
• NM_001407863.1:c.4948G>C
• NM_001407874.1:c.4867G>C
• NM_001407875.1:c.4867G>C
• NM_001407879.1:c.4864G>C
• NM_001407881.1:c.4864G>C
• NM_001407882.1:c.4864G>C
• NM_001407884.1:c.4864G>C
• NM_001407885.1:c.4864G>C
• NM_001407886.1:c.4864G>C
• NM_001407887.1:c.4864G>C
• NM_001407889.1:c.4864G>C
• NM_001407894.1:c.4861G>C
• NM_001407895.1:c.4861G>C
• NM_001407896.1:c.4861G>C
• NM_001407897.1:c.4861G>C
• NM_001407898.1:c.4861G>C
• NM_001407899.1:c.4861G>C
• NM_001407900.1:c.4861G>C
• NM_001407902.1:c.4861G>C
• NM_001407904.1:c.4861G>C
• NM_001407906.1:c.4861G>C
• NM_001407907.1:c.4861G>C
• NM_001407908.1:c.4861G>C
• NM_001407909.1:c.4861G>C
• NM_001407910.1:c.4861G>C
• NM_001407915.1:c.4858G>C
• NM_001407916.1:c.4858G>C
• NM_001407917.1:c.4858G>C
• NM_001407918.1:c.4858G>C
• NM_001407919.1:c.4951G>C
• NM_001407920.1:c.4810G>C
• NM_001407921.1:c.4810G>C
• NM_001407922.1:c.4810G>C
• NM_001407923.1:c.4810G>C
• NM_001407924.1:c.4810G>C
• NM_001407925.1:c.4810G>C
• NM_001407926.1:c.4810G>C
• NM_001407927.1:c.4807G>C
• NM_001407928.1:c.4807G>C
• NM_001407929.1:c.4807G>C
• NM_001407930.1:c.4807G>C
• NM_001407931.1:c.4807G>C
• NM_001407932.1:c.4807G>C
• NM_001407933.1:c.4807G>C
• NM_001407934.1:c.4804G>C
• NM_001407935.1:c.4804G>C
• NM_001407936.1:c.4804G>C
• NM_001407937.1:c.4951G>C
• NM_001407938.1:c.4951G>C
• NM_001407939.1:c.4948G>C
• NM_001407940.1:c.4948G>C
• NM_001407941.1:c.4945G>C
• NM_001407942.1:c.4933G>C
• NM_001407943.1:c.4930G>C
• NM_001407944.1:c.4930G>C
• NM_001407945.1:c.4930G>C
• NM_001407946.1:c.4741G>C
• NM_001407947.1:c.4741G>C
• NM_001407948.1:c.4741G>C
• NM_001407949.1:c.4741G>C
• NM_001407950.1:c.4738G>C
• NM_001407951.1:c.4738G>C
• NM_001407952.1:c.4738G>C
• NM_001407953.1:c.4738G>C
• NM_001407954.1:c.4738G>C
• NM_001407955.1:c.4738G>C
• NM_001407956.1:c.4735G>C
• NM_001407957.1:c.4735G>C
• NM_001407958.1:c.4735G>C
• NM_001407959.1:c.4693G>C
• NM_001407960.1:c.4690G>C
• NM_001407962.1:c.4690G>C
• NM_001407963.1:c.4687G>C
• NM_001407964.1:c.4612G>C
• NM_001407965.1:c.4567G>C
• NM_001407966.1:c.4186G>C
• NM_001407967.1:c.4183G>C
• NM_001407968.1:c.2470G>C
• NM_001407969.1:c.2467G>C
• NM_001407970.1:c.1831G>C
• NM_001407971.1:c.1831G>C
• NM_001407972.1:c.1828G>C
• NM_001407973.1:c.1765G>C
• NM_001407974.1:c.1765G>C
• NM_001407975.1:c.1765G>C
• NM_001407976.1:c.1765G>C
• NM_001407977.1:c.1765G>C
• NM_001407978.1:c.1765G>C
• NM_001407979.1:c.1762G>C
• NM_001407980.1:c.1762G>C
• NM_001407981.1:c.1762G>C
• NM_001407982.1:c.1762G>C
• NM_001407983.1:c.1762G>C
• NM_001407984.1:c.1762G>C
• NM_001407985.1:c.1762G>C
• NM_001407986.1:c.1762G>C
• NM_001407990.1:c.1762G>C
• NM_001407991.1:c.1762G>C
• NM_001407992.1:c.1762G>C
• NM_001407993.1:c.1762G>C
• NM_001408392.1:c.1759G>C
• NM_001408396.1:c.1759G>C
• NM_001408397.1:c.1759G>C
• NM_001408398.1:c.1759G>C
• NM_001408399.1:c.1759G>C
• NM_001408400.1:c.1759G>C
• NM_001408401.1:c.1759G>C
• NM_001408402.1:c.1759G>C
• NM_001408403.1:c.1759G>C
• NM_001408404.1:c.1759G>C
• NM_001408406.1:c.1756G>C
• NM_001408407.1:c.1756G>C
• NM_001408408.1:c.1756G>C
• NM_001408409.1:c.1753G>C
• NM_001408410.1:c.1690G>C
• NM_001408411.1:c.1687G>C
• NM_001408412.1:c.1684G>C
• NM_001408413.1:c.1684G>C
• NM_001408414.1:c.1684G>C
• NM_001408415.1:c.1684G>C
• NM_001408416.1:c.1684G>C
• NM_001408418.1:c.1648G>C
• NM_001408419.1:c.1648G>C
• NM_001408420.1:c.1648G>C
• NM_001408421.1:c.1645G>C
• NM_001408422.1:c.1645G>C
• NM_001408423.1:c.1645G>C
• NM_001408424.1:c.1645G>C
• NM_001408425.1:c.1642G>C
• NM_001408426.1:c.1642G>C
• NM_001408427.1:c.1642G>C
• NM_001408428.1:c.1642G>C
• NM_001408429.1:c.1642G>C
• NM_001408430.1:c.1642G>C
• NM_001408431.1:c.1642G>C
• NM_001408432.1:c.1639G>C
• NM_001408433.1:c.1639G>C
• NM_001408434.1:c.1639G>C
• NM_001408435.1:c.1639G>C
• NM_001408436.1:c.1639G>C
• NM_001408437.1:c.1639G>C
• NM_001408438.1:c.1639G>C
• NM_001408439.1:c.1639G>C
• NM_001408440.1:c.1639G>C
• NM_001408441.1:c.1639G>C
• NM_001408442.1:c.1639G>C
• NM_001408443.1:c.1639G>C
• NM_001408444.1:c.1639G>C
• NM_001408445.1:c.1636G>C
• NM_001408446.1:c.1636G>C
• NM_001408447.1:c.1636G>C
• NM_001408448.1:c.1636G>C
• NM_001408450.1:c.1636G>C
• NM_001408451.1:c.1630G>C
• NM_001408452.1:c.1624G>C
• NM_001408453.1:c.1624G>C
• NM_001408454.1:c.1624G>C
• NM_001408455.1:c.1624G>C
• NM_001408456.1:c.1624G>C
• NM_001408457.1:c.1624G>C
• NM_001408458.1:c.1621G>C
• NM_001408459.1:c.1621G>C
• NM_001408460.1:c.1621G>C
• NM_001408461.1:c.1621G>C
• NM_001408462.1:c.1621G>C
• NM_001408463.1:c.1621G>C
• NM_001408464.1:c.1621G>C
• NM_001408465.1:c.1621G>C
• NM_001408466.1:c.1621G>C
• NM_001408467.1:c.1621G>C
• NM_001408468.1:c.1618G>C
• NM_001408469.1:c.1618G>C
• NM_001408470.1:c.1618G>C
• NM_001408472.1:c.1762G>C
• NM_001408473.1:c.1759G>C
• NM_001408474.1:c.1564G>C
• NM_001408475.1:c.1561G>C
• NM_001408476.1:c.1561G>C
• NM_001408478.1:c.1555G>C
• NM_001408479.1:c.1555G>C
• NM_001408480.1:c.1555G>C
• NM_001408481.1:c.1552G>C
• NM_001408482.1:c.1552G>C
• NM_001408483.1:c.1552G>C
• NM_001408484.1:c.1552G>C
• NM_001408485.1:c.1552G>C
• NM_001408489.1:c.1552G>C
• NM_001408490.1:c.1552G>C
• NM_001408491.1:c.1552G>C
• NM_001408492.1:c.1549G>C
• NM_001408493.1:c.1549G>C
• NM_001408494.1:c.1525G>C
• NM_001408495.1:c.1519G>C
• NM_001408496.1:c.1501G>C
• NM_001408497.1:c.1501G>C
• NM_001408498.1:c.1501G>C
• NM_001408499.1:c.1501G>C
• NM_001408500.1:c.1501G>C
• NM_001408501.1:c.1501G>C
• NM_001408502.1:c.1498G>C
• NM_001408503.1:c.1498G>C
• NM_001408504.1:c.1498G>C
• NM_001408505.1:c.1495G>C
• NM_001408506.1:c.1438G>C
• NM_001408507.1:c.1435G>C
• NM_001408508.1:c.1426G>C
• NM_001408509.1:c.1423G>C
• NM_001408510.1:c.1384G>C
• NM_001408511.1:c.1381G>C
• NM_001408512.1:c.1261G>C
• NM_001408513.1:c.1234G>C
• NM_007294.4:c.5074G>CMANE SELECT
• NM_007297.4:c.4933G>C
• NM_007298.4:c.1762G>C
• NM_007299.4:c.1762G>C
• NM_007300.4:c.5137G>C
• NM_007304.2:c.1762G>C
• NP_001394500.1:p.Asp1621His
• NP_001394510.1:p.Asp1714His
• NP_001394511.1:p.Asp1714His
• NP_001394512.1:p.Asp1713His
• NP_001394514.1:p.Asp1713His
• NP_001394516.1:p.Asp1713His
• NP_001394519.1:p.Asp1712His
• NP_001394520.1:p.Asp1712His
• NP_001394522.1:p.Asp1692His
• NP_001394523.1:p.Asp1692His
• NP_001394525.1:p.Asp1692His
• NP_001394526.1:p.Asp1692His
• NP_001394527.1:p.Asp1692His
• NP_001394531.1:p.Asp1692His
• NP_001394532.1:p.Asp1692His
• NP_001394534.1:p.Asp1692His
• NP_001394539.1:p.Asp1691His
• NP_001394540.1:p.Asp1691His
• NP_001394541.1:p.Asp1691His
• NP_001394542.1:p.Asp1691His
• NP_001394543.1:p.Asp1691His
• NP_001394544.1:p.Asp1691His
• NP_001394545.1:p.Asp1691His
• NP_001394546.1:p.Asp1691His
• NP_001394547.1:p.Asp1691His
• NP_001394548.1:p.Asp1691His
• NP_001394549.1:p.Asp1691His
• NP_001394550.1:p.Asp1691His
• NP_001394551.1:p.Asp1691His
• NP_001394552.1:p.Asp1691His
• NP_001394553.1:p.Asp1691His
• NP_001394554.1:p.Asp1691His
• NP_001394555.1:p.Asp1691His
• NP_001394556.1:p.Asp1690His
• NP_001394557.1:p.Asp1690His
• NP_001394558.1:p.Asp1690His
• NP_001394559.1:p.Asp1690His
• NP_001394560.1:p.Asp1690His
• NP_001394561.1:p.Asp1690His
• NP_001394562.1:p.Asp1690His
• NP_001394563.1:p.Asp1690His
• NP_001394564.1:p.Asp1690His
• NP_001394565.1:p.Asp1690His
• NP_001394566.1:p.Asp1690His
• NP_001394567.1:p.Asp1690His
• NP_001394568.1:p.Asp1690His
• NP_001394569.1:p.Asp1690His
• NP_001394570.1:p.Asp1690His
• NP_001394571.1:p.Asp1690His
• NP_001394573.1:p.Asp1689His
• NP_001394574.1:p.Asp1689His
• NP_001394575.1:p.Asp1688His
• NP_001394576.1:p.Asp1687His
• NP_001394577.1:p.Asp1673His
• NP_001394578.1:p.Asp1672His
• NP_001394581.1:p.Gly1692Arg
• NP_001394582.1:p.Asp1666His
• NP_001394583.1:p.Asp1666His
• NP_001394584.1:p.Asp1666His
• NP_001394585.1:p.Asp1665His
• NP_001394586.1:p.Asp1665His
• NP_001394587.1:p.Asp1665His
• NP_001394588.1:p.Asp1664His
• NP_001394589.1:p.Asp1664His
• NP_001394590.1:p.Asp1664His
• NP_001394591.1:p.Asp1664His
• NP_001394592.1:p.Asp1664His
• NP_001394593.1:p.Asp1651His
• NP_001394594.1:p.Asp1651His
• NP_001394595.1:p.Asp1651His
• NP_001394596.1:p.Asp1651His
• NP_001394597.1:p.Asp1651His
• NP_001394598.1:p.Asp1651His
• NP_001394599.1:p.Asp1650His
• NP_001394600.1:p.Asp1650His
• NP_001394601.1:p.Asp1650His
• NP_001394602.1:p.Asp1650His
• NP_001394603.1:p.Asp1650His
• NP_001394604.1:p.Asp1650His
• NP_001394605.1:p.Asp1650His
• NP_001394606.1:p.Asp1650His
• NP_001394607.1:p.Asp1650His
• NP_001394608.1:p.Asp1650His
• NP_001394609.1:p.Asp1650His
• NP_001394610.1:p.Asp1649His
• NP_001394611.1:p.Asp1649His
• NP_001394612.1:p.Asp1649His
• NP_001394613.1:p.Asp1692His
• NP_001394614.1:p.Asp1649His
• NP_001394615.1:p.Asp1649His
• NP_001394616.1:p.Asp1649His
• NP_001394617.1:p.Asp1649His
• NP_001394618.1:p.Asp1649His
• NP_001394619.1:p.Asp1648His
• NP_001394620.1:p.Asp1648His
• NP_001394621.1:p.Asp1645His
• NP_001394623.1:p.Asp1645His
• NP_001394624.1:p.Asp1645His
• NP_001394625.1:p.Asp1645His
• NP_001394626.1:p.Asp1645His
• NP_001394627.1:p.Asp1645His
• NP_001394653.1:p.Asp1645His
• NP_001394654.1:p.Asp1645His
• NP_001394655.1:p.Asp1645His
• NP_001394656.1:p.Asp1645His
• NP_001394657.1:p.Asp1645His
• NP_001394658.1:p.Asp1645His
• NP_001394659.1:p.Asp1645His
• NP_001394660.1:p.Asp1645His
• NP_001394661.1:p.Asp1644His
• NP_001394662.1:p.Asp1644His
• NP_001394663.1:p.Asp1644His
• NP_001394664.1:p.Asp1644His
• NP_001394665.1:p.Asp1644His
• NP_001394666.1:p.Asp1644His
• NP_001394667.1:p.Asp1644His
• NP_001394668.1:p.Asp1644His
• NP_001394669.1:p.Asp1644His
• NP_001394670.1:p.Asp1644His
• NP_001394671.1:p.Asp1644His
• NP_001394672.1:p.Asp1644His
• NP_001394673.1:p.Asp1644His
• NP_001394674.1:p.Asp1644His
• NP_001394675.1:p.Asp1644His
• NP_001394676.1:p.Asp1644His
• NP_001394677.1:p.Asp1644His
• NP_001394678.1:p.Asp1644His
• NP_001394679.1:p.Asp1644His
• NP_001394680.1:p.Asp1644His
• NP_001394681.1:p.Asp1644His
• NP_001394767.1:p.Asp1643His
• NP_001394768.1:p.Asp1643His
• NP_001394770.1:p.Asp1643His
• NP_001394771.1:p.Asp1643His
• NP_001394772.1:p.Asp1643His
• NP_001394773.1:p.Asp1643His
• NP_001394774.1:p.Asp1643His
• NP_001394775.1:p.Asp1643His
• NP_001394776.1:p.Asp1643His
• NP_001394777.1:p.Asp1643His
• NP_001394778.1:p.Asp1643His
• NP_001394779.1:p.Asp1643His
• NP_001394780.1:p.Asp1643His
• NP_001394781.1:p.Asp1643His
• NP_001394782.1:p.Asp1643His
• NP_001394783.1:p.Asp1692His
• NP_001394787.1:p.Asp1691His
• NP_001394788.1:p.Asp1691His
• NP_001394789.1:p.Asp1691His
• NP_001394790.1:p.Asp1690His
• NP_001394791.1:p.Asp1625His
• NP_001394792.1:p.Gly1650Arg
• NP_001394803.1:p.Asp1623His
• NP_001394804.1:p.Asp1623His
• NP_001394808.1:p.Asp1622His
• NP_001394810.1:p.Asp1622His
• NP_001394811.1:p.Asp1622His
• NP_001394813.1:p.Asp1622His
• NP_001394814.1:p.Asp1622His
• NP_001394815.1:p.Asp1622His
• NP_001394816.1:p.Asp1622His
• NP_001394818.1:p.Asp1622His
• NP_001394823.1:p.Asp1621His
• NP_001394824.1:p.Asp1621His
• NP_001394825.1:p.Asp1621His
• NP_001394826.1:p.Asp1621His
• NP_001394827.1:p.Asp1621His
• NP_001394828.1:p.Asp1621His
• NP_001394829.1:p.Asp1621His
• NP_001394831.1:p.Asp1621His
• NP_001394833.1:p.Asp1621His
• NP_001394835.1:p.Asp1621His
• NP_001394836.1:p.Asp1621His
• NP_001394837.1:p.Asp1621His
• NP_001394838.1:p.Asp1621His
• NP_001394839.1:p.Asp1621His
• NP_001394844.1:p.Asp1620His
• NP_001394845.1:p.Asp1620His
• NP_001394846.1:p.Asp1620His
• NP_001394847.1:p.Asp1620His
• NP_001394848.1:p.Asp1651His
• NP_001394849.1:p.Asp1604His
• NP_001394850.1:p.Asp1604His
• NP_001394851.1:p.Asp1604His
• NP_001394852.1:p.Asp1604His
• NP_001394853.1:p.Asp1604His
• NP_001394854.1:p.Asp1604His
• NP_001394855.1:p.Asp1604His
• NP_001394856.1:p.Asp1603His
• NP_001394857.1:p.Asp1603His
• NP_001394858.1:p.Asp1603His
• NP_001394859.1:p.Asp1603His
• NP_001394860.1:p.Asp1603His
• NP_001394861.1:p.Asp1603His
• NP_001394862.1:p.Asp1603His
• NP_001394863.1:p.Asp1602His
• NP_001394864.1:p.Asp1602His
• NP_001394865.1:p.Asp1602His
• NP_001394866.1:p.Asp1651His
• NP_001394867.1:p.Asp1651His
• NP_001394868.1:p.Asp1650His
• NP_001394869.1:p.Asp1650His
• NP_001394870.1:p.Asp1649His
• NP_001394871.1:p.Asp1645His
• NP_001394872.1:p.Asp1644His
• NP_001394873.1:p.Asp1644His
• NP_001394874.1:p.Asp1644His
• NP_001394875.1:p.Asp1581His
• NP_001394876.1:p.Asp1581His
• NP_001394877.1:p.Asp1581His
• NP_001394878.1:p.Asp1581His
• NP_001394879.1:p.Asp1580His
• NP_001394880.1:p.Asp1580His
• NP_001394881.1:p.Asp1580His
• NP_001394882.1:p.Asp1580His
• NP_001394883.1:p.Asp1580His
• NP_001394884.1:p.Asp1580His
• NP_001394885.1:p.Asp1579His
• NP_001394886.1:p.Asp1579His
• NP_001394887.1:p.Asp1579His
• NP_001394888.1:p.Asp1565His
• NP_001394889.1:p.Asp1564His
• NP_001394891.1:p.Asp1564His
• NP_001394892.1:p.Asp1563His
• NP_001394893.1:p.Asp1538His
• NP_001394894.1:p.Asp1523His
• NP_001394895.1:p.Asp1396His
• NP_001394896.1:p.Asp1395His
• NP_001394897.1:p.Asp824His
• NP_001394898.1:p.Asp823His
• NP_001394899.1:p.Asp611His
• NP_001394900.1:p.Asp611His
• NP_001394901.1:p.Asp610His
• NP_001394902.1:p.Asp589His
• NP_001394903.1:p.Asp589His
• NP_001394904.1:p.Asp589His
• NP_001394905.1:p.Asp589His
• NP_001394906.1:p.Asp589His
• NP_001394907.1:p.Asp589His
• NP_001394908.1:p.Asp588His
• NP_001394909.1:p.Asp588His
• NP_001394910.1:p.Asp588His
• NP_001394911.1:p.Asp588His
• NP_001394912.1:p.Asp588His
• NP_001394913.1:p.Asp588His
• NP_001394914.1:p.Asp588His
• NP_001394915.1:p.Asp588His
• NP_001394919.1:p.Asp588His
• NP_001394920.1:p.Asp588His
• NP_001394921.1:p.Asp588His
• NP_001394922.1:p.Asp588His
• NP_001395321.1:p.Asp587His
• NP_001395325.1:p.Asp587His
• NP_001395326.1:p.Asp587His
• NP_001395327.1:p.Asp587His
• NP_001395328.1:p.Asp587His
• NP_001395329.1:p.Asp587His
• NP_001395330.1:p.Asp587His
• NP_001395331.1:p.Asp587His
• NP_001395332.1:p.Asp587His
• NP_001395333.1:p.Asp587His
• NP_001395335.1:p.Asp586His
• NP_001395336.1:p.Asp586His
• NP_001395337.1:p.Asp586His
• NP_001395338.1:p.Asp585His
• NP_001395339.1:p.Asp564His
• NP_001395340.1:p.Asp563His
• NP_001395341.1:p.Asp562His
• NP_001395342.1:p.Asp562His
• NP_001395343.1:p.Asp562His
• NP_001395344.1:p.Asp562His
• NP_001395345.1:p.Asp562His
• NP_001395347.1:p.Asp550His
• NP_001395348.1:p.Asp550His
• NP_001395349.1:p.Asp550His
• NP_001395350.1:p.Asp549His
• NP_001395351.1:p.Asp549His
• NP_001395352.1:p.Asp549His
• NP_001395353.1:p.Asp549His
• NP_001395354.1:p.Asp548His
• NP_001395355.1:p.Asp548His
• NP_001395356.1:p.Asp548His
• NP_001395357.1:p.Asp548His
• NP_001395358.1:p.Asp548His
• NP_001395359.1:p.Asp548His
• NP_001395360.1:p.Asp548His
• NP_001395361.1:p.Asp547His
• NP_001395362.1:p.Asp547His
• NP_001395363.1:p.Asp547His
• NP_001395364.1:p.Asp547His
• NP_001395365.1:p.Asp547His
• NP_001395366.1:p.Asp547His
• NP_001395367.1:p.Asp547His
• NP_001395368.1:p.Asp547His
• NP_001395369.1:p.Asp547His
• NP_001395370.1:p.Asp547His
• NP_001395371.1:p.Asp547His
• NP_001395372.1:p.Asp547His
• NP_001395373.1:p.Asp547His
• NP_001395374.1:p.Asp546His
• NP_001395375.1:p.Asp546His
• NP_001395376.1:p.Asp546His
• NP_001395377.1:p.Asp546His
• NP_001395379.1:p.Asp546His
• NP_001395380.1:p.Asp544His
• NP_001395381.1:p.Asp542His
• NP_001395382.1:p.Asp542His
• NP_001395383.1:p.Asp542His
• NP_001395384.1:p.Asp542His
• NP_001395385.1:p.Asp542His
• NP_001395386.1:p.Asp542His
• NP_001395387.1:p.Asp541His
• NP_001395388.1:p.Asp541His
• NP_001395389.1:p.Asp541His
• NP_001395390.1:p.Asp541His
• NP_001395391.1:p.Asp541His
• NP_001395392.1:p.Asp541His
• NP_001395393.1:p.Asp541His
• NP_001395394.1:p.Asp541His
• NP_001395395.1:p.Asp541His
• NP_001395396.1:p.Asp541His
• NP_001395397.1:p.Asp540His
• NP_001395398.1:p.Asp540His
• NP_001395399.1:p.Asp540His
• NP_001395401.1:p.Asp588His
• NP_001395402.1:p.Asp587His
• NP_001395403.1:p.Asp522His
• NP_001395404.1:p.Asp521His
• NP_001395405.1:p.Asp521His
• NP_001395407.1:p.Asp519His
• NP_001395408.1:p.Asp519His
• NP_001395409.1:p.Asp519His
• NP_001395410.1:p.Asp518His
• NP_001395411.1:p.Asp518His
• NP_001395412.1:p.Asp518His
• NP_001395413.1:p.Asp518His
• NP_001395414.1:p.Asp518His
• NP_001395418.1:p.Asp518His
• NP_001395419.1:p.Asp518His
• NP_001395420.1:p.Asp518His
• NP_001395421.1:p.Asp517His
• NP_001395422.1:p.Asp517His
• NP_001395423.1:p.Asp509His
• NP_001395424.1:p.Asp507His
• NP_001395425.1:p.Asp501His
• NP_001395426.1:p.Asp501His
• NP_001395427.1:p.Asp501His
• NP_001395428.1:p.Asp501His
• NP_001395429.1:p.Asp501His
• NP_001395430.1:p.Asp501His
• NP_001395431.1:p.Asp500His
• NP_001395432.1:p.Asp500His
• NP_001395433.1:p.Asp500His
• NP_001395434.1:p.Asp499His
• NP_001395435.1:p.Asp480His
• NP_001395436.1:p.Asp479His
• NP_001395437.1:p.Asp476His
• NP_001395438.1:p.Asp475His
• NP_001395439.1:p.Asp462His
• NP_001395440.1:p.Asp461His
• NP_001395441.1:p.Asp421His
• NP_001395442.1:p.Asp412His
• NP_009225.1:p.Asp1692His
• NP_009225.1:p.Asp1692His
• NP_009228.2:p.Asp1645His
• NP_009229.2:p.Asp588His
• NP_009229.2:p.Asp588His
• NP_009230.2:p.Asp588His
• NP_009231.2:p.Asp1713His
• NP_009235.2:p.Asp588His
• LRG_292t1:c.5074G>C
• LRG_292:g.150376G>C
• LRG_292p1:p.Asp1692His
• NC_000017.10:g.41219625C>G
• NM_007294.3:c.5074G>C
• NM_007298.3:c.1762G>C
• NR_027676.2:n.5251G>C
• U14680.1:n.5193G>C

This HGVS expression did not pass validation

Nucleotide change:

5193G>C

Protein change:

D1395H

Links:

dbSNP: rs80187739

NCBI 1000 Genomes Browser:

rs80187739

Molecular consequence:

• NM_001407571.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407581.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407582.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407583.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407585.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407587.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407590.1:c.5134G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407591.1:c.5134G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407593.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407594.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407596.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407597.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407598.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407602.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407603.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407605.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407610.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407611.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407612.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407613.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407614.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407615.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407616.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407617.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407618.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407619.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407620.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407621.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407622.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407623.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407624.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407625.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407626.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407627.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407628.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407629.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407630.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407631.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407632.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407633.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407634.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407635.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407636.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407637.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407638.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407639.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407640.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407641.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407642.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407644.1:c.5065G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407645.1:c.5065G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407646.1:c.5062G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407647.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407648.1:c.5017G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407649.1:c.5014G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407652.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407653.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407654.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407655.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407656.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407657.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407658.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407659.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407660.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407661.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407662.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407663.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407664.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407665.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407666.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407667.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407668.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407669.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407670.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407671.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407672.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407673.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407674.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407675.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407676.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407677.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407678.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407679.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407680.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407681.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407682.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407683.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407684.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407685.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407686.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407687.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407688.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407689.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407690.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407691.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407692.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407694.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407695.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407696.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407697.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407698.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407724.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407725.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407726.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407727.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407728.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407729.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407730.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407731.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407732.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407733.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407734.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407735.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407736.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407737.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407738.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407739.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407740.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407741.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407742.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407743.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407744.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407745.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407746.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407747.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407748.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407749.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407750.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407751.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407752.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407838.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407839.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407841.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407842.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407843.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407844.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407845.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407846.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407847.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407848.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407849.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407850.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407851.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407852.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407853.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407854.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407858.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407859.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407860.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407861.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407862.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407863.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407874.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407875.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407879.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407881.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407882.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407884.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407885.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407886.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407887.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407889.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407894.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407895.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407896.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407897.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407898.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407899.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407900.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407902.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407904.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407906.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407907.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407908.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407909.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407910.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407915.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407916.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407917.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407918.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407919.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407920.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407921.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407922.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407923.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407924.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407925.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407926.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407927.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407928.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407929.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407930.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407931.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407932.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407933.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407934.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407935.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407936.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407937.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407938.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407939.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407940.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407941.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407942.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407943.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407944.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407945.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407946.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407947.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407948.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407949.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407950.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407951.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407952.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407953.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407954.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407955.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407956.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407957.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407958.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407959.1:c.4693G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407960.1:c.4690G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407962.1:c.4690G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407963.1:c.4687G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407964.1:c.4612G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407965.1:c.4567G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407966.1:c.4186G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407967.1:c.4183G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407968.1:c.2470G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407969.1:c.2467G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407970.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407971.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407972.1:c.1828G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407973.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407974.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407975.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407976.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407977.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407978.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407979.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407980.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407981.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407982.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407983.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407984.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407985.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407986.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407990.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407991.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407992.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407993.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408392.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408396.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408397.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408398.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408399.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408400.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408401.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408402.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408403.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408404.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408406.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408407.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408408.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408409.1:c.1753G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408410.1:c.1690G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408411.1:c.1687G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408412.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408413.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408414.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408415.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408416.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408418.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408419.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408420.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408421.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408422.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408423.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408424.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408425.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408426.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408427.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408428.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408429.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408430.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408431.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408432.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408433.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408434.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408435.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408436.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408437.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408438.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408439.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408440.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408441.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408442.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408443.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408444.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408445.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408446.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408447.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408448.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408450.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408451.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408452.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408453.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408454.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408455.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408456.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408457.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408458.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408459.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408460.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408461.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408462.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408463.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408464.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408465.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408466.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408467.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408468.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408469.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408470.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408472.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408473.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408474.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408475.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408476.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408478.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408479.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408480.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408481.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408482.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408483.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408484.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408485.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408489.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408490.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408491.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408492.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408493.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408494.1:c.1525G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408495.1:c.1519G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408496.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408497.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408498.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408499.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408500.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408501.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408502.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408503.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408504.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408505.1:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408506.1:c.1438G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408507.1:c.1435G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408508.1:c.1426G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408509.1:c.1423G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408510.1:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408511.1:c.1381G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408512.1:c.1261G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001408513.1:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007294.4:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007297.4:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007298.4:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007299.4:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007300.4:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007304.2:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027676.2:n.5251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

• The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5074G>C, a MISSENSE variant, produced a function score of -1.58, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.