NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) AND Malignant tumor of breast
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- 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:
- RCV001353883.10
Allele description [Variation Report for NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)]
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:
- 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.
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
-
transmembrane protein 14B isoform b [Homo sapiens]
transmembrane protein 14B isoform b [Homo sapiens]gi|189181734|ref|NP_001121183.1|Protein
-
Mus musculus transmembrane protein 14C, mRNA (cDNA clone IMAGE:5345573), with ap...
Mus musculus transmembrane protein 14C, mRNA (cDNA clone IMAGE:5345573), with apparent retained introngi|47682622|gb|BC069899.1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591568 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591568.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.Asp1692His variant was identified by Coupier (2004) in an individual with breast cancer, and was also identified in the following databases: dbSNP (ID: rs80187739) “With pathogenic, probable-pathogenic, untested allele”, HGMD, UMD (2X as a causal variant), BIC (3X with clinical importance) and LOVD. The p.Asp1692 residue is conserved in mammals and lower organisms and computational analyses (PolyPhen2, SIFT, AlignGVGD, BLOSUM) suggest that the p.Asp1692His variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. The c.5074G>C mutation occurs at the last base of the exon, a position which has been shown to be part of the splicing consensus sequence, and variants involving this position sometimes affect splicing. In-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, HumanSpliceFinder) predicts a greater than 10% difference in splicing in 4 of 4 different programs, supporting a pathogenic role for this variant. There are conflicting results in the literature regarding the effect of the variant on splicing and protein function. Two studies detected a cryptic splice site in intron 17 by RT-PCR, with a predicted frame-shift and truncation of the encoded protein (Thomassen 2012, Wappenschmidt 2012). In addition, Wappenschmidt (2012) found that the variant enhanced exon 17 skipping compared to controls; this effect was also reported by Houdayer (2012), though it should be noted that transcripts lacking exon 17 have been found in controls, representing a naturally occurring isoform (Wappenschmidt 2012). Another study did not detect any abnormal transcript from a proband with this variant (Coupier 2004). Assays evaluating peptide binding and structural stability (Lee 2010), or DNA repair (Coupier 2004) yielded intermediate or inconclusive results as compared to wild-type protein function. In summary, based on the above information and the consensus from several of the above sources supports a more pathogenic role for this variant. This variant is classified pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024