NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His) AND Hereditary cancer-predisposing syndrome
- 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:
- RCV001190128.6
Allele description [Variation Report for NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His)]
NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His)
- 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.5269G>C (p.Asp1757His)
- HGVS:
- NC_000017.11:g.43057060C>G
- NG_005905.2:g.160924G>C
- NM_001407571.1:c.5056G>C
- NM_001407581.1:c.5335G>C
- NM_001407582.1:c.5335G>C
- NM_001407583.1:c.5332G>C
- NM_001407585.1:c.5332G>C
- NM_001407587.1:c.5332G>C
- NM_001407590.1:c.5329G>C
- NM_001407591.1:c.5329G>C
- NM_001407593.1:c.5269G>C
- NM_001407594.1:c.5269G>C
- NM_001407596.1:c.5269G>C
- NM_001407597.1:c.5269G>C
- NM_001407598.1:c.5269G>C
- NM_001407602.1:c.5269G>C
- NM_001407603.1:c.5269G>C
- NM_001407605.1:c.5269G>C
- NM_001407610.1:c.5266G>C
- NM_001407611.1:c.5266G>C
- NM_001407612.1:c.5266G>C
- NM_001407613.1:c.5266G>C
- NM_001407614.1:c.5266G>C
- NM_001407615.1:c.5266G>C
- NM_001407616.1:c.5266G>C
- NM_001407617.1:c.5266G>C
- NM_001407618.1:c.5266G>C
- NM_001407619.1:c.5266G>C
- NM_001407620.1:c.5266G>C
- NM_001407621.1:c.5266G>C
- NM_001407622.1:c.5266G>C
- NM_001407623.1:c.5266G>C
- NM_001407624.1:c.5266G>C
- NM_001407625.1:c.5266G>C
- NM_001407626.1:c.5266G>C
- NM_001407627.1:c.5263G>C
- NM_001407628.1:c.5263G>C
- NM_001407629.1:c.5263G>C
- NM_001407630.1:c.5263G>C
- NM_001407631.1:c.5263G>C
- NM_001407632.1:c.5263G>C
- NM_001407633.1:c.5263G>C
- NM_001407634.1:c.5263G>C
- NM_001407635.1:c.5263G>C
- NM_001407636.1:c.5263G>C
- NM_001407637.1:c.5263G>C
- NM_001407638.1:c.5263G>C
- NM_001407639.1:c.5263G>C
- NM_001407640.1:c.5263G>C
- NM_001407641.1:c.5263G>C
- NM_001407642.1:c.5263G>C
- NM_001407644.1:c.5260G>C
- NM_001407645.1:c.5260G>C
- NM_001407646.1:c.5257G>C
- NM_001407647.1:c.5254G>C
- NM_001407648.1:c.5212G>C
- NM_001407649.1:c.5209G>C
- NM_001407652.1:c.5191G>C
- NM_001407653.1:c.5191G>C
- NM_001407654.1:c.5191G>C
- NM_001407655.1:c.5191G>C
- NM_001407656.1:c.5188G>C
- NM_001407657.1:c.5188G>C
- NM_001407658.1:c.5188G>C
- NM_001407659.1:c.5185G>C
- NM_001407660.1:c.5185G>C
- NM_001407661.1:c.5185G>C
- NM_001407662.1:c.5185G>C
- NM_001407663.1:c.5185G>C
- NM_001407664.1:c.5146G>C
- NM_001407665.1:c.5146G>C
- NM_001407666.1:c.5146G>C
- NM_001407667.1:c.5146G>C
- NM_001407668.1:c.5146G>C
- NM_001407669.1:c.5146G>C
- NM_001407670.1:c.5143G>C
- NM_001407671.1:c.5143G>C
- NM_001407672.1:c.5143G>C
- NM_001407673.1:c.5143G>C
- NM_001407674.1:c.5143G>C
- NM_001407675.1:c.5143G>C
- NM_001407676.1:c.5143G>C
- NM_001407677.1:c.5143G>C
- NM_001407678.1:c.5143G>C
- NM_001407679.1:c.5143G>C
- NM_001407680.1:c.5143G>C
- NM_001407681.1:c.5140G>C
- NM_001407682.1:c.5140G>C
- NM_001407683.1:c.5140G>C
- NM_001407684.1:c.5269G>C
- NM_001407685.1:c.5140G>C
- NM_001407686.1:c.5140G>C
- NM_001407687.1:c.5140G>C
- NM_001407688.1:c.5140G>C
- NM_001407689.1:c.5140G>C
- NM_001407690.1:c.5137G>C
- NM_001407691.1:c.5137G>C
- NM_001407692.1:c.5128G>C
- NM_001407694.1:c.5128G>C
- NM_001407695.1:c.5128G>C
- NM_001407696.1:c.5128G>C
- NM_001407697.1:c.5128G>C
- NM_001407698.1:c.5128G>C
- NM_001407724.1:c.5128G>C
- NM_001407725.1:c.5128G>C
- NM_001407726.1:c.5128G>C
- NM_001407727.1:c.5128G>C
- NM_001407728.1:c.5128G>C
- NM_001407729.1:c.5128G>C
- NM_001407730.1:c.5128G>C
- NM_001407731.1:c.5128G>C
- NM_001407732.1:c.5125G>C
- NM_001407733.1:c.5125G>C
- NM_001407734.1:c.5125G>C
- NM_001407735.1:c.5125G>C
- NM_001407736.1:c.5125G>C
- NM_001407737.1:c.5125G>C
- NM_001407738.1:c.5125G>C
- NM_001407739.1:c.5125G>C
- NM_001407740.1:c.5125G>C
- NM_001407741.1:c.5125G>C
- NM_001407742.1:c.5125G>C
- NM_001407743.1:c.5125G>C
- NM_001407744.1:c.5125G>C
- NM_001407745.1:c.5125G>C
- NM_001407746.1:c.5125G>C
- NM_001407747.1:c.5125G>C
- NM_001407748.1:c.5125G>C
- NM_001407749.1:c.5125G>C
- NM_001407750.1:c.5125G>C
- NM_001407751.1:c.5125G>C
- NM_001407752.1:c.5125G>C
- NM_001407838.1:c.5122G>C
- NM_001407839.1:c.5122G>C
- NM_001407841.1:c.5122G>C
- NM_001407842.1:c.5122G>C
- NM_001407843.1:c.5122G>C
- NM_001407844.1:c.5122G>C
- NM_001407845.1:c.5122G>C
- NM_001407846.1:c.5122G>C
- NM_001407847.1:c.5122G>C
- NM_001407848.1:c.5122G>C
- NM_001407849.1:c.5122G>C
- NM_001407850.1:c.5122G>C
- NM_001407851.1:c.5122G>C
- NM_001407852.1:c.5122G>C
- NM_001407853.1:c.5122G>C
- NM_001407854.1:c.5269G>C
- NM_001407858.1:c.5266G>C
- NM_001407859.1:c.5266G>C
- NM_001407860.1:c.5266G>C
- NM_001407861.1:c.5263G>C
- NM_001407862.1:c.5068G>C
- NM_001407863.1:c.5065G>C
- NM_001407874.1:c.5062G>C
- NM_001407875.1:c.5062G>C
- NM_001407879.1:c.5059G>C
- NM_001407881.1:c.5059G>C
- NM_001407882.1:c.5059G>C
- NM_001407884.1:c.5059G>C
- NM_001407885.1:c.5059G>C
- NM_001407886.1:c.5059G>C
- NM_001407887.1:c.5059G>C
- NM_001407889.1:c.5059G>C
- NM_001407894.1:c.5056G>C
- NM_001407895.1:c.5056G>C
- NM_001407896.1:c.5056G>C
- NM_001407897.1:c.5056G>C
- NM_001407898.1:c.5056G>C
- NM_001407899.1:c.5056G>C
- NM_001407900.1:c.5056G>C
- NM_001407902.1:c.5056G>C
- NM_001407904.1:c.5056G>C
- NM_001407906.1:c.5056G>C
- NM_001407907.1:c.5056G>C
- NM_001407908.1:c.5056G>C
- NM_001407909.1:c.5056G>C
- NM_001407910.1:c.5056G>C
- NM_001407915.1:c.5053G>C
- NM_001407916.1:c.5053G>C
- NM_001407917.1:c.5053G>C
- NM_001407918.1:c.5053G>C
- NM_001407919.1:c.5146G>C
- NM_001407920.1:c.5005G>C
- NM_001407921.1:c.5005G>C
- NM_001407922.1:c.5005G>C
- NM_001407923.1:c.5005G>C
- NM_001407924.1:c.5005G>C
- NM_001407925.1:c.5005G>C
- NM_001407926.1:c.5005G>C
- NM_001407927.1:c.5002G>C
- NM_001407928.1:c.5002G>C
- NM_001407929.1:c.5002G>C
- NM_001407930.1:c.5002G>C
- NM_001407931.1:c.5002G>C
- NM_001407932.1:c.5002G>C
- NM_001407933.1:c.5002G>C
- NM_001407934.1:c.4999G>C
- NM_001407935.1:c.4999G>C
- NM_001407936.1:c.4999G>C
- NM_001407937.1:c.5146G>C
- NM_001407938.1:c.5146G>C
- NM_001407939.1:c.5143G>C
- NM_001407940.1:c.5143G>C
- NM_001407941.1:c.5140G>C
- NM_001407942.1:c.5128G>C
- NM_001407943.1:c.5125G>C
- NM_001407944.1:c.5125G>C
- NM_001407945.1:c.5125G>C
- NM_001407946.1:c.4936G>C
- NM_001407947.1:c.4936G>C
- NM_001407948.1:c.4936G>C
- NM_001407949.1:c.4936G>C
- NM_001407950.1:c.4933G>C
- NM_001407951.1:c.4933G>C
- NM_001407952.1:c.4933G>C
- NM_001407953.1:c.4933G>C
- NM_001407954.1:c.4933G>C
- NM_001407955.1:c.4933G>C
- NM_001407956.1:c.4930G>C
- NM_001407957.1:c.4930G>C
- NM_001407958.1:c.4930G>C
- NM_001407959.1:c.4888G>C
- NM_001407960.1:c.4885G>C
- NM_001407962.1:c.4885G>C
- NM_001407963.1:c.4882G>C
- NM_001407964.1:c.4807G>C
- NM_001407965.1:c.4762G>C
- NM_001407966.1:c.4381G>C
- NM_001407967.1:c.4378G>C
- NM_001407968.1:c.2665G>C
- NM_001407969.1:c.2662G>C
- NM_001407970.1:c.2026G>C
- NM_001407971.1:c.2026G>C
- NM_001407972.1:c.2023G>C
- NM_001407973.1:c.1960G>C
- NM_001407974.1:c.1960G>C
- NM_001407975.1:c.1960G>C
- NM_001407976.1:c.1960G>C
- NM_001407977.1:c.1960G>C
- NM_001407978.1:c.1960G>C
- NM_001407979.1:c.1957G>C
- NM_001407980.1:c.1957G>C
- NM_001407981.1:c.1957G>C
- NM_001407982.1:c.1957G>C
- NM_001407983.1:c.1957G>C
- NM_001407984.1:c.1957G>C
- NM_001407985.1:c.1957G>C
- NM_001407986.1:c.1957G>C
- NM_001407990.1:c.1957G>C
- NM_001407991.1:c.1957G>C
- NM_001407992.1:c.1957G>C
- NM_001407993.1:c.1957G>C
- NM_001408392.1:c.1954G>C
- NM_001408396.1:c.1954G>C
- NM_001408397.1:c.1954G>C
- NM_001408398.1:c.1954G>C
- NM_001408399.1:c.1954G>C
- NM_001408400.1:c.1954G>C
- NM_001408401.1:c.1954G>C
- NM_001408402.1:c.1954G>C
- NM_001408403.1:c.1954G>C
- NM_001408404.1:c.1954G>C
- NM_001408406.1:c.1951G>C
- NM_001408407.1:c.1951G>C
- NM_001408408.1:c.1951G>C
- NM_001408409.1:c.1948G>C
- NM_001408410.1:c.1885G>C
- NM_001408411.1:c.1882G>C
- NM_001408412.1:c.1879G>C
- NM_001408413.1:c.1879G>C
- NM_001408414.1:c.1879G>C
- NM_001408415.1:c.1879G>C
- NM_001408416.1:c.1879G>C
- NM_001408418.1:c.1843G>C
- NM_001408419.1:c.1843G>C
- NM_001408420.1:c.1843G>C
- NM_001408421.1:c.1840G>C
- NM_001408422.1:c.1840G>C
- NM_001408423.1:c.1840G>C
- NM_001408424.1:c.1840G>C
- NM_001408425.1:c.1837G>C
- NM_001408426.1:c.1837G>C
- NM_001408427.1:c.1837G>C
- NM_001408428.1:c.1837G>C
- NM_001408429.1:c.1837G>C
- NM_001408430.1:c.1837G>C
- NM_001408431.1:c.1837G>C
- NM_001408432.1:c.1834G>C
- NM_001408433.1:c.1834G>C
- NM_001408434.1:c.1834G>C
- NM_001408435.1:c.1834G>C
- NM_001408436.1:c.1834G>C
- NM_001408437.1:c.1834G>C
- NM_001408438.1:c.1834G>C
- NM_001408439.1:c.1834G>C
- NM_001408440.1:c.1834G>C
- NM_001408441.1:c.1834G>C
- NM_001408442.1:c.1834G>C
- NM_001408443.1:c.1834G>C
- NM_001408444.1:c.1834G>C
- NM_001408445.1:c.1831G>C
- NM_001408446.1:c.1831G>C
- NM_001408447.1:c.1831G>C
- NM_001408448.1:c.1831G>C
- NM_001408450.1:c.1831G>C
- NM_001408451.1:c.1825G>C
- NM_001408452.1:c.1819G>C
- NM_001408453.1:c.1819G>C
- NM_001408454.1:c.1819G>C
- NM_001408455.1:c.1819G>C
- NM_001408456.1:c.1819G>C
- NM_001408457.1:c.1819G>C
- NM_001408458.1:c.1816G>C
- NM_001408459.1:c.1816G>C
- NM_001408460.1:c.1816G>C
- NM_001408461.1:c.1816G>C
- NM_001408462.1:c.1816G>C
- NM_001408463.1:c.1816G>C
- NM_001408464.1:c.1816G>C
- NM_001408465.1:c.1816G>C
- NM_001408466.1:c.1816G>C
- NM_001408467.1:c.1816G>C
- NM_001408468.1:c.1813G>C
- NM_001408469.1:c.1813G>C
- NM_001408470.1:c.1813G>C
- NM_001408472.1:c.1957G>C
- NM_001408473.1:c.1954G>C
- NM_001408474.1:c.1759G>C
- NM_001408475.1:c.1756G>C
- NM_001408476.1:c.1756G>C
- NM_001408478.1:c.1750G>C
- NM_001408479.1:c.1750G>C
- NM_001408480.1:c.1750G>C
- NM_001408481.1:c.1747G>C
- NM_001408482.1:c.1747G>C
- NM_001408483.1:c.1747G>C
- NM_001408484.1:c.1747G>C
- NM_001408485.1:c.1747G>C
- NM_001408489.1:c.1747G>C
- NM_001408490.1:c.1747G>C
- NM_001408491.1:c.1747G>C
- NM_001408492.1:c.1744G>C
- NM_001408493.1:c.1744G>C
- NM_001408494.1:c.1720G>C
- NM_001408495.1:c.1714G>C
- NM_001408496.1:c.1696G>C
- NM_001408497.1:c.1696G>C
- NM_001408498.1:c.1696G>C
- NM_001408499.1:c.1696G>C
- NM_001408500.1:c.1696G>C
- NM_001408501.1:c.1696G>C
- NM_001408502.1:c.1693G>C
- NM_001408503.1:c.1693G>C
- NM_001408504.1:c.1693G>C
- NM_001408505.1:c.1690G>C
- NM_001408506.1:c.1633G>C
- NM_001408507.1:c.1630G>C
- NM_001408508.1:c.1621G>C
- NM_001408509.1:c.1618G>C
- NM_001408510.1:c.1579G>C
- NM_001408511.1:c.1576G>C
- NM_001408512.1:c.1456G>C
- NM_001408513.1:c.1429G>C
- NM_001408514.1:c.1033G>C
- NM_007294.4:c.5269G>CMANE SELECT
- NM_007297.4:c.5128G>C
- NM_007298.4:c.1957G>C
- NM_007299.4:c.1957G>C
- NM_007300.4:c.5332G>C
- NM_007304.2:c.1957G>C
- NP_001394500.1:p.Asp1686His
- NP_001394510.1:p.Asp1779His
- NP_001394511.1:p.Asp1779His
- NP_001394512.1:p.Asp1778His
- NP_001394514.1:p.Asp1778His
- NP_001394516.1:p.Asp1778His
- NP_001394519.1:p.Asp1777His
- NP_001394520.1:p.Asp1777His
- NP_001394522.1:p.Asp1757His
- NP_001394523.1:p.Asp1757His
- NP_001394525.1:p.Asp1757His
- NP_001394526.1:p.Asp1757His
- NP_001394527.1:p.Asp1757His
- NP_001394531.1:p.Asp1757His
- NP_001394532.1:p.Asp1757His
- NP_001394534.1:p.Asp1757His
- NP_001394539.1:p.Asp1756His
- NP_001394540.1:p.Asp1756His
- NP_001394541.1:p.Asp1756His
- NP_001394542.1:p.Asp1756His
- NP_001394543.1:p.Asp1756His
- NP_001394544.1:p.Asp1756His
- NP_001394545.1:p.Asp1756His
- NP_001394546.1:p.Asp1756His
- NP_001394547.1:p.Asp1756His
- NP_001394548.1:p.Asp1756His
- NP_001394549.1:p.Asp1756His
- NP_001394550.1:p.Asp1756His
- NP_001394551.1:p.Asp1756His
- NP_001394552.1:p.Asp1756His
- NP_001394553.1:p.Asp1756His
- NP_001394554.1:p.Asp1756His
- NP_001394555.1:p.Asp1756His
- NP_001394556.1:p.Asp1755His
- NP_001394557.1:p.Asp1755His
- NP_001394558.1:p.Asp1755His
- NP_001394559.1:p.Asp1755His
- NP_001394560.1:p.Asp1755His
- NP_001394561.1:p.Asp1755His
- NP_001394562.1:p.Asp1755His
- NP_001394563.1:p.Asp1755His
- NP_001394564.1:p.Asp1755His
- NP_001394565.1:p.Asp1755His
- NP_001394566.1:p.Asp1755His
- NP_001394567.1:p.Asp1755His
- NP_001394568.1:p.Asp1755His
- NP_001394569.1:p.Asp1755His
- NP_001394570.1:p.Asp1755His
- NP_001394571.1:p.Asp1755His
- NP_001394573.1:p.Asp1754His
- NP_001394574.1:p.Asp1754His
- NP_001394575.1:p.Asp1753His
- NP_001394576.1:p.Asp1752His
- NP_001394577.1:p.Asp1738His
- NP_001394578.1:p.Asp1737His
- NP_001394581.1:p.Asp1731His
- NP_001394582.1:p.Asp1731His
- NP_001394583.1:p.Asp1731His
- NP_001394584.1:p.Asp1731His
- NP_001394585.1:p.Asp1730His
- NP_001394586.1:p.Asp1730His
- NP_001394587.1:p.Asp1730His
- NP_001394588.1:p.Asp1729His
- NP_001394589.1:p.Asp1729His
- NP_001394590.1:p.Asp1729His
- NP_001394591.1:p.Asp1729His
- NP_001394592.1:p.Asp1729His
- NP_001394593.1:p.Asp1716His
- NP_001394594.1:p.Asp1716His
- NP_001394595.1:p.Asp1716His
- NP_001394596.1:p.Asp1716His
- NP_001394597.1:p.Asp1716His
- NP_001394598.1:p.Asp1716His
- NP_001394599.1:p.Asp1715His
- NP_001394600.1:p.Asp1715His
- NP_001394601.1:p.Asp1715His
- NP_001394602.1:p.Asp1715His
- NP_001394603.1:p.Asp1715His
- NP_001394604.1:p.Asp1715His
- NP_001394605.1:p.Asp1715His
- NP_001394606.1:p.Asp1715His
- NP_001394607.1:p.Asp1715His
- NP_001394608.1:p.Asp1715His
- NP_001394609.1:p.Asp1715His
- NP_001394610.1:p.Asp1714His
- NP_001394611.1:p.Asp1714His
- NP_001394612.1:p.Asp1714His
- NP_001394613.1:p.Asp1757His
- NP_001394614.1:p.Asp1714His
- NP_001394615.1:p.Asp1714His
- NP_001394616.1:p.Asp1714His
- NP_001394617.1:p.Asp1714His
- NP_001394618.1:p.Asp1714His
- NP_001394619.1:p.Asp1713His
- NP_001394620.1:p.Asp1713His
- NP_001394621.1:p.Asp1710His
- NP_001394623.1:p.Asp1710His
- NP_001394624.1:p.Asp1710His
- NP_001394625.1:p.Asp1710His
- NP_001394626.1:p.Asp1710His
- NP_001394627.1:p.Asp1710His
- NP_001394653.1:p.Asp1710His
- NP_001394654.1:p.Asp1710His
- NP_001394655.1:p.Asp1710His
- NP_001394656.1:p.Asp1710His
- NP_001394657.1:p.Asp1710His
- NP_001394658.1:p.Asp1710His
- NP_001394659.1:p.Asp1710His
- NP_001394660.1:p.Asp1710His
- NP_001394661.1:p.Asp1709His
- NP_001394662.1:p.Asp1709His
- NP_001394663.1:p.Asp1709His
- NP_001394664.1:p.Asp1709His
- NP_001394665.1:p.Asp1709His
- NP_001394666.1:p.Asp1709His
- NP_001394667.1:p.Asp1709His
- NP_001394668.1:p.Asp1709His
- NP_001394669.1:p.Asp1709His
- NP_001394670.1:p.Asp1709His
- NP_001394671.1:p.Asp1709His
- NP_001394672.1:p.Asp1709His
- NP_001394673.1:p.Asp1709His
- NP_001394674.1:p.Asp1709His
- NP_001394675.1:p.Asp1709His
- NP_001394676.1:p.Asp1709His
- NP_001394677.1:p.Asp1709His
- NP_001394678.1:p.Asp1709His
- NP_001394679.1:p.Asp1709His
- NP_001394680.1:p.Asp1709His
- NP_001394681.1:p.Asp1709His
- NP_001394767.1:p.Asp1708His
- NP_001394768.1:p.Asp1708His
- NP_001394770.1:p.Asp1708His
- NP_001394771.1:p.Asp1708His
- NP_001394772.1:p.Asp1708His
- NP_001394773.1:p.Asp1708His
- NP_001394774.1:p.Asp1708His
- NP_001394775.1:p.Asp1708His
- NP_001394776.1:p.Asp1708His
- NP_001394777.1:p.Asp1708His
- NP_001394778.1:p.Asp1708His
- NP_001394779.1:p.Asp1708His
- NP_001394780.1:p.Asp1708His
- NP_001394781.1:p.Asp1708His
- NP_001394782.1:p.Asp1708His
- NP_001394783.1:p.Asp1757His
- NP_001394787.1:p.Asp1756His
- NP_001394788.1:p.Asp1756His
- NP_001394789.1:p.Asp1756His
- NP_001394790.1:p.Asp1755His
- NP_001394791.1:p.Asp1690His
- NP_001394792.1:p.Asp1689His
- NP_001394803.1:p.Asp1688His
- NP_001394804.1:p.Asp1688His
- NP_001394808.1:p.Asp1687His
- NP_001394810.1:p.Asp1687His
- NP_001394811.1:p.Asp1687His
- NP_001394813.1:p.Asp1687His
- NP_001394814.1:p.Asp1687His
- NP_001394815.1:p.Asp1687His
- NP_001394816.1:p.Asp1687His
- NP_001394818.1:p.Asp1687His
- NP_001394823.1:p.Asp1686His
- NP_001394824.1:p.Asp1686His
- NP_001394825.1:p.Asp1686His
- NP_001394826.1:p.Asp1686His
- NP_001394827.1:p.Asp1686His
- NP_001394828.1:p.Asp1686His
- NP_001394829.1:p.Asp1686His
- NP_001394831.1:p.Asp1686His
- NP_001394833.1:p.Asp1686His
- NP_001394835.1:p.Asp1686His
- NP_001394836.1:p.Asp1686His
- NP_001394837.1:p.Asp1686His
- NP_001394838.1:p.Asp1686His
- NP_001394839.1:p.Asp1686His
- NP_001394844.1:p.Asp1685His
- NP_001394845.1:p.Asp1685His
- NP_001394846.1:p.Asp1685His
- NP_001394847.1:p.Asp1685His
- NP_001394848.1:p.Asp1716His
- NP_001394849.1:p.Asp1669His
- NP_001394850.1:p.Asp1669His
- NP_001394851.1:p.Asp1669His
- NP_001394852.1:p.Asp1669His
- NP_001394853.1:p.Asp1669His
- NP_001394854.1:p.Asp1669His
- NP_001394855.1:p.Asp1669His
- NP_001394856.1:p.Asp1668His
- NP_001394857.1:p.Asp1668His
- NP_001394858.1:p.Asp1668His
- NP_001394859.1:p.Asp1668His
- NP_001394860.1:p.Asp1668His
- NP_001394861.1:p.Asp1668His
- NP_001394862.1:p.Asp1668His
- NP_001394863.1:p.Asp1667His
- NP_001394864.1:p.Asp1667His
- NP_001394865.1:p.Asp1667His
- NP_001394866.1:p.Asp1716His
- NP_001394867.1:p.Asp1716His
- NP_001394868.1:p.Asp1715His
- NP_001394869.1:p.Asp1715His
- NP_001394870.1:p.Asp1714His
- NP_001394871.1:p.Asp1710His
- NP_001394872.1:p.Asp1709His
- NP_001394873.1:p.Asp1709His
- NP_001394874.1:p.Asp1709His
- NP_001394875.1:p.Asp1646His
- NP_001394876.1:p.Asp1646His
- NP_001394877.1:p.Asp1646His
- NP_001394878.1:p.Asp1646His
- NP_001394879.1:p.Asp1645His
- NP_001394880.1:p.Asp1645His
- NP_001394881.1:p.Asp1645His
- NP_001394882.1:p.Asp1645His
- NP_001394883.1:p.Asp1645His
- NP_001394884.1:p.Asp1645His
- NP_001394885.1:p.Asp1644His
- NP_001394886.1:p.Asp1644His
- NP_001394887.1:p.Asp1644His
- NP_001394888.1:p.Asp1630His
- NP_001394889.1:p.Asp1629His
- NP_001394891.1:p.Asp1629His
- NP_001394892.1:p.Asp1628His
- NP_001394893.1:p.Asp1603His
- NP_001394894.1:p.Asp1588His
- NP_001394895.1:p.Asp1461His
- NP_001394896.1:p.Asp1460His
- NP_001394897.1:p.Asp889His
- NP_001394898.1:p.Asp888His
- NP_001394899.1:p.Asp676His
- NP_001394900.1:p.Asp676His
- NP_001394901.1:p.Asp675His
- NP_001394902.1:p.Asp654His
- NP_001394903.1:p.Asp654His
- NP_001394904.1:p.Asp654His
- NP_001394905.1:p.Asp654His
- NP_001394906.1:p.Asp654His
- NP_001394907.1:p.Asp654His
- NP_001394908.1:p.Asp653His
- NP_001394909.1:p.Asp653His
- NP_001394910.1:p.Asp653His
- NP_001394911.1:p.Asp653His
- NP_001394912.1:p.Asp653His
- NP_001394913.1:p.Asp653His
- NP_001394914.1:p.Asp653His
- NP_001394915.1:p.Asp653His
- NP_001394919.1:p.Asp653His
- NP_001394920.1:p.Asp653His
- NP_001394921.1:p.Asp653His
- NP_001394922.1:p.Asp653His
- NP_001395321.1:p.Asp652His
- NP_001395325.1:p.Asp652His
- NP_001395326.1:p.Asp652His
- NP_001395327.1:p.Asp652His
- NP_001395328.1:p.Asp652His
- NP_001395329.1:p.Asp652His
- NP_001395330.1:p.Asp652His
- NP_001395331.1:p.Asp652His
- NP_001395332.1:p.Asp652His
- NP_001395333.1:p.Asp652His
- NP_001395335.1:p.Asp651His
- NP_001395336.1:p.Asp651His
- NP_001395337.1:p.Asp651His
- NP_001395338.1:p.Asp650His
- NP_001395339.1:p.Asp629His
- NP_001395340.1:p.Asp628His
- NP_001395341.1:p.Asp627His
- NP_001395342.1:p.Asp627His
- NP_001395343.1:p.Asp627His
- NP_001395344.1:p.Asp627His
- NP_001395345.1:p.Asp627His
- NP_001395347.1:p.Asp615His
- NP_001395348.1:p.Asp615His
- NP_001395349.1:p.Asp615His
- NP_001395350.1:p.Asp614His
- NP_001395351.1:p.Asp614His
- NP_001395352.1:p.Asp614His
- NP_001395353.1:p.Asp614His
- NP_001395354.1:p.Asp613His
- NP_001395355.1:p.Asp613His
- NP_001395356.1:p.Asp613His
- NP_001395357.1:p.Asp613His
- NP_001395358.1:p.Asp613His
- NP_001395359.1:p.Asp613His
- NP_001395360.1:p.Asp613His
- NP_001395361.1:p.Asp612His
- NP_001395362.1:p.Asp612His
- NP_001395363.1:p.Asp612His
- NP_001395364.1:p.Asp612His
- NP_001395365.1:p.Asp612His
- NP_001395366.1:p.Asp612His
- NP_001395367.1:p.Asp612His
- NP_001395368.1:p.Asp612His
- NP_001395369.1:p.Asp612His
- NP_001395370.1:p.Asp612His
- NP_001395371.1:p.Asp612His
- NP_001395372.1:p.Asp612His
- NP_001395373.1:p.Asp612His
- NP_001395374.1:p.Asp611His
- NP_001395375.1:p.Asp611His
- NP_001395376.1:p.Asp611His
- NP_001395377.1:p.Asp611His
- NP_001395379.1:p.Asp611His
- NP_001395380.1:p.Asp609His
- NP_001395381.1:p.Asp607His
- NP_001395382.1:p.Asp607His
- NP_001395383.1:p.Asp607His
- NP_001395384.1:p.Asp607His
- NP_001395385.1:p.Asp607His
- NP_001395386.1:p.Asp607His
- NP_001395387.1:p.Asp606His
- NP_001395388.1:p.Asp606His
- NP_001395389.1:p.Asp606His
- NP_001395390.1:p.Asp606His
- NP_001395391.1:p.Asp606His
- NP_001395392.1:p.Asp606His
- NP_001395393.1:p.Asp606His
- NP_001395394.1:p.Asp606His
- NP_001395395.1:p.Asp606His
- NP_001395396.1:p.Asp606His
- NP_001395397.1:p.Asp605His
- NP_001395398.1:p.Asp605His
- NP_001395399.1:p.Asp605His
- NP_001395401.1:p.Asp653His
- NP_001395402.1:p.Asp652His
- NP_001395403.1:p.Asp587His
- NP_001395404.1:p.Asp586His
- NP_001395405.1:p.Asp586His
- NP_001395407.1:p.Asp584His
- NP_001395408.1:p.Asp584His
- NP_001395409.1:p.Asp584His
- NP_001395410.1:p.Asp583His
- NP_001395411.1:p.Asp583His
- NP_001395412.1:p.Asp583His
- NP_001395413.1:p.Asp583His
- NP_001395414.1:p.Asp583His
- NP_001395418.1:p.Asp583His
- NP_001395419.1:p.Asp583His
- NP_001395420.1:p.Asp583His
- NP_001395421.1:p.Asp582His
- NP_001395422.1:p.Asp582His
- NP_001395423.1:p.Asp574His
- NP_001395424.1:p.Asp572His
- NP_001395425.1:p.Asp566His
- NP_001395426.1:p.Asp566His
- NP_001395427.1:p.Asp566His
- NP_001395428.1:p.Asp566His
- NP_001395429.1:p.Asp566His
- NP_001395430.1:p.Asp566His
- NP_001395431.1:p.Asp565His
- NP_001395432.1:p.Asp565His
- NP_001395433.1:p.Asp565His
- NP_001395434.1:p.Asp564His
- NP_001395435.1:p.Asp545His
- NP_001395436.1:p.Asp544His
- NP_001395437.1:p.Asp541His
- NP_001395438.1:p.Asp540His
- NP_001395439.1:p.Asp527His
- NP_001395440.1:p.Asp526His
- NP_001395441.1:p.Asp486His
- NP_001395442.1:p.Asp477His
- NP_001395443.1:p.Asp345His
- NP_009225.1:p.Asp1757His
- NP_009225.1:p.Asp1757His
- NP_009228.2:p.Asp1710His
- NP_009229.2:p.Asp653His
- NP_009229.2:p.Asp653His
- NP_009230.2:p.Asp653His
- NP_009231.2:p.Asp1778His
- NP_009235.2:p.Asp653His
- LRG_292t1:c.5269G>C
- LRG_292:g.160924G>C
- LRG_292p1:p.Asp1757His
- NC_000017.10:g.41209077C>G
- NM_007294.3:c.5269G>C
- NM_007298.3:c.1957G>C
- NR_027676.2:n.5446G>C
This HGVS expression did not pass validation- Protein change:
- D1460H
- Links:
- dbSNP: rs863224764
- NCBI 1000 Genomes Browser:
- rs863224764
- Molecular consequence:
- NM_001407571.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5335G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5335G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5332G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5332G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5332G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5329G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5329G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5260G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5260G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5257G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5254G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5212G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5209G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5191G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5191G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5191G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5191G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5188G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5188G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5188G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5185G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5185G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5185G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5185G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5185G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5122G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5266G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5263G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5065G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5062G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5062G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4999G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4999G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4999G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.5143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.5125G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4936G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4936G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4936G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4936G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4882G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4381G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4378G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2665G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2662G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2026G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2026G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2023G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1882G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1825G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1813G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1813G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1813G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1744G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1744G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1720G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1690G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1579G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1576G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1456G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1429G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1033G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5269G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5128G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5332G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5446G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5269G>C, a MISSENSE variant, produced a function score of 0, corresponding to a functional classification of FUNCTIONAL. 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:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Chain B, Histone H4
Chain B, Histone H4gi|46015156|pdb|1P3M|BProtein
-
Chain H, Histone H2B
Chain H, Histone H2Bgi|46015162|pdb|1P3M|HProtein
-
PLCD1 phospholipase C delta 1 [Canis lupus familiaris]
PLCD1 phospholipase C delta 1 [Canis lupus familiaris]Gene ID:485586Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001357545 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (May 7, 2019) | germline | clinical testing | |
SCV002643871 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Jan 15, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Color Diagnostics, LLC DBA Color Health, SCV001357545.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Ambry Genetics, SCV002643871.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024