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NM_007294.4(BRCA1):c.5238C>G (p.His1746Gln) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002517619.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5238C>G (p.His1746Gln)]

NM_007294.4(BRCA1):c.5238C>G (p.His1746Gln)

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.5238C>G (p.His1746Gln)
HGVS:
  • NC_000017.11:g.43057091G>C
  • NG_005905.2:g.160893C>G
  • NM_001407571.1:c.5025C>G
  • NM_001407581.1:c.5304C>G
  • NM_001407582.1:c.5304C>G
  • NM_001407583.1:c.5301C>G
  • NM_001407585.1:c.5301C>G
  • NM_001407587.1:c.5301C>G
  • NM_001407590.1:c.5298C>G
  • NM_001407591.1:c.5298C>G
  • NM_001407593.1:c.5238C>G
  • NM_001407594.1:c.5238C>G
  • NM_001407596.1:c.5238C>G
  • NM_001407597.1:c.5238C>G
  • NM_001407598.1:c.5238C>G
  • NM_001407602.1:c.5238C>G
  • NM_001407603.1:c.5238C>G
  • NM_001407605.1:c.5238C>G
  • NM_001407610.1:c.5235C>G
  • NM_001407611.1:c.5235C>G
  • NM_001407612.1:c.5235C>G
  • NM_001407613.1:c.5235C>G
  • NM_001407614.1:c.5235C>G
  • NM_001407615.1:c.5235C>G
  • NM_001407616.1:c.5235C>G
  • NM_001407617.1:c.5235C>G
  • NM_001407618.1:c.5235C>G
  • NM_001407619.1:c.5235C>G
  • NM_001407620.1:c.5235C>G
  • NM_001407621.1:c.5235C>G
  • NM_001407622.1:c.5235C>G
  • NM_001407623.1:c.5235C>G
  • NM_001407624.1:c.5235C>G
  • NM_001407625.1:c.5235C>G
  • NM_001407626.1:c.5235C>G
  • NM_001407627.1:c.5232C>G
  • NM_001407628.1:c.5232C>G
  • NM_001407629.1:c.5232C>G
  • NM_001407630.1:c.5232C>G
  • NM_001407631.1:c.5232C>G
  • NM_001407632.1:c.5232C>G
  • NM_001407633.1:c.5232C>G
  • NM_001407634.1:c.5232C>G
  • NM_001407635.1:c.5232C>G
  • NM_001407636.1:c.5232C>G
  • NM_001407637.1:c.5232C>G
  • NM_001407638.1:c.5232C>G
  • NM_001407639.1:c.5232C>G
  • NM_001407640.1:c.5232C>G
  • NM_001407641.1:c.5232C>G
  • NM_001407642.1:c.5232C>G
  • NM_001407644.1:c.5229C>G
  • NM_001407645.1:c.5229C>G
  • NM_001407646.1:c.5226C>G
  • NM_001407647.1:c.5223C>G
  • NM_001407648.1:c.5181C>G
  • NM_001407649.1:c.5178C>G
  • NM_001407652.1:c.5160C>G
  • NM_001407653.1:c.5160C>G
  • NM_001407654.1:c.5160C>G
  • NM_001407655.1:c.5160C>G
  • NM_001407656.1:c.5157C>G
  • NM_001407657.1:c.5157C>G
  • NM_001407658.1:c.5157C>G
  • NM_001407659.1:c.5154C>G
  • NM_001407660.1:c.5154C>G
  • NM_001407661.1:c.5154C>G
  • NM_001407662.1:c.5154C>G
  • NM_001407663.1:c.5154C>G
  • NM_001407664.1:c.5115C>G
  • NM_001407665.1:c.5115C>G
  • NM_001407666.1:c.5115C>G
  • NM_001407667.1:c.5115C>G
  • NM_001407668.1:c.5115C>G
  • NM_001407669.1:c.5115C>G
  • NM_001407670.1:c.5112C>G
  • NM_001407671.1:c.5112C>G
  • NM_001407672.1:c.5112C>G
  • NM_001407673.1:c.5112C>G
  • NM_001407674.1:c.5112C>G
  • NM_001407675.1:c.5112C>G
  • NM_001407676.1:c.5112C>G
  • NM_001407677.1:c.5112C>G
  • NM_001407678.1:c.5112C>G
  • NM_001407679.1:c.5112C>G
  • NM_001407680.1:c.5112C>G
  • NM_001407681.1:c.5109C>G
  • NM_001407682.1:c.5109C>G
  • NM_001407683.1:c.5109C>G
  • NM_001407684.1:c.5238C>G
  • NM_001407685.1:c.5109C>G
  • NM_001407686.1:c.5109C>G
  • NM_001407687.1:c.5109C>G
  • NM_001407688.1:c.5109C>G
  • NM_001407689.1:c.5109C>G
  • NM_001407690.1:c.5106C>G
  • NM_001407691.1:c.5106C>G
  • NM_001407692.1:c.5097C>G
  • NM_001407694.1:c.5097C>G
  • NM_001407695.1:c.5097C>G
  • NM_001407696.1:c.5097C>G
  • NM_001407697.1:c.5097C>G
  • NM_001407698.1:c.5097C>G
  • NM_001407724.1:c.5097C>G
  • NM_001407725.1:c.5097C>G
  • NM_001407726.1:c.5097C>G
  • NM_001407727.1:c.5097C>G
  • NM_001407728.1:c.5097C>G
  • NM_001407729.1:c.5097C>G
  • NM_001407730.1:c.5097C>G
  • NM_001407731.1:c.5097C>G
  • NM_001407732.1:c.5094C>G
  • NM_001407733.1:c.5094C>G
  • NM_001407734.1:c.5094C>G
  • NM_001407735.1:c.5094C>G
  • NM_001407736.1:c.5094C>G
  • NM_001407737.1:c.5094C>G
  • NM_001407738.1:c.5094C>G
  • NM_001407739.1:c.5094C>G
  • NM_001407740.1:c.5094C>G
  • NM_001407741.1:c.5094C>G
  • NM_001407742.1:c.5094C>G
  • NM_001407743.1:c.5094C>G
  • NM_001407744.1:c.5094C>G
  • NM_001407745.1:c.5094C>G
  • NM_001407746.1:c.5094C>G
  • NM_001407747.1:c.5094C>G
  • NM_001407748.1:c.5094C>G
  • NM_001407749.1:c.5094C>G
  • NM_001407750.1:c.5094C>G
  • NM_001407751.1:c.5094C>G
  • NM_001407752.1:c.5094C>G
  • NM_001407838.1:c.5091C>G
  • NM_001407839.1:c.5091C>G
  • NM_001407841.1:c.5091C>G
  • NM_001407842.1:c.5091C>G
  • NM_001407843.1:c.5091C>G
  • NM_001407844.1:c.5091C>G
  • NM_001407845.1:c.5091C>G
  • NM_001407846.1:c.5091C>G
  • NM_001407847.1:c.5091C>G
  • NM_001407848.1:c.5091C>G
  • NM_001407849.1:c.5091C>G
  • NM_001407850.1:c.5091C>G
  • NM_001407851.1:c.5091C>G
  • NM_001407852.1:c.5091C>G
  • NM_001407853.1:c.5091C>G
  • NM_001407854.1:c.5238C>G
  • NM_001407858.1:c.5235C>G
  • NM_001407859.1:c.5235C>G
  • NM_001407860.1:c.5235C>G
  • NM_001407861.1:c.5232C>G
  • NM_001407862.1:c.5037C>G
  • NM_001407863.1:c.5034C>G
  • NM_001407874.1:c.5031C>G
  • NM_001407875.1:c.5031C>G
  • NM_001407879.1:c.5028C>G
  • NM_001407881.1:c.5028C>G
  • NM_001407882.1:c.5028C>G
  • NM_001407884.1:c.5028C>G
  • NM_001407885.1:c.5028C>G
  • NM_001407886.1:c.5028C>G
  • NM_001407887.1:c.5028C>G
  • NM_001407889.1:c.5028C>G
  • NM_001407894.1:c.5025C>G
  • NM_001407895.1:c.5025C>G
  • NM_001407896.1:c.5025C>G
  • NM_001407897.1:c.5025C>G
  • NM_001407898.1:c.5025C>G
  • NM_001407899.1:c.5025C>G
  • NM_001407900.1:c.5025C>G
  • NM_001407902.1:c.5025C>G
  • NM_001407904.1:c.5025C>G
  • NM_001407906.1:c.5025C>G
  • NM_001407907.1:c.5025C>G
  • NM_001407908.1:c.5025C>G
  • NM_001407909.1:c.5025C>G
  • NM_001407910.1:c.5025C>G
  • NM_001407915.1:c.5022C>G
  • NM_001407916.1:c.5022C>G
  • NM_001407917.1:c.5022C>G
  • NM_001407918.1:c.5022C>G
  • NM_001407919.1:c.5115C>G
  • NM_001407920.1:c.4974C>G
  • NM_001407921.1:c.4974C>G
  • NM_001407922.1:c.4974C>G
  • NM_001407923.1:c.4974C>G
  • NM_001407924.1:c.4974C>G
  • NM_001407925.1:c.4974C>G
  • NM_001407926.1:c.4974C>G
  • NM_001407927.1:c.4971C>G
  • NM_001407928.1:c.4971C>G
  • NM_001407929.1:c.4971C>G
  • NM_001407930.1:c.4971C>G
  • NM_001407931.1:c.4971C>G
  • NM_001407932.1:c.4971C>G
  • NM_001407933.1:c.4971C>G
  • NM_001407934.1:c.4968C>G
  • NM_001407935.1:c.4968C>G
  • NM_001407936.1:c.4968C>G
  • NM_001407937.1:c.5115C>G
  • NM_001407938.1:c.5115C>G
  • NM_001407939.1:c.5112C>G
  • NM_001407940.1:c.5112C>G
  • NM_001407941.1:c.5109C>G
  • NM_001407942.1:c.5097C>G
  • NM_001407943.1:c.5094C>G
  • NM_001407944.1:c.5094C>G
  • NM_001407945.1:c.5094C>G
  • NM_001407946.1:c.4905C>G
  • NM_001407947.1:c.4905C>G
  • NM_001407948.1:c.4905C>G
  • NM_001407949.1:c.4905C>G
  • NM_001407950.1:c.4902C>G
  • NM_001407951.1:c.4902C>G
  • NM_001407952.1:c.4902C>G
  • NM_001407953.1:c.4902C>G
  • NM_001407954.1:c.4902C>G
  • NM_001407955.1:c.4902C>G
  • NM_001407956.1:c.4899C>G
  • NM_001407957.1:c.4899C>G
  • NM_001407958.1:c.4899C>G
  • NM_001407959.1:c.4857C>G
  • NM_001407960.1:c.4854C>G
  • NM_001407962.1:c.4854C>G
  • NM_001407963.1:c.4851C>G
  • NM_001407964.1:c.4776C>G
  • NM_001407965.1:c.4731C>G
  • NM_001407966.1:c.4350C>G
  • NM_001407967.1:c.4347C>G
  • NM_001407968.1:c.2634C>G
  • NM_001407969.1:c.2631C>G
  • NM_001407970.1:c.1995C>G
  • NM_001407971.1:c.1995C>G
  • NM_001407972.1:c.1992C>G
  • NM_001407973.1:c.1929C>G
  • NM_001407974.1:c.1929C>G
  • NM_001407975.1:c.1929C>G
  • NM_001407976.1:c.1929C>G
  • NM_001407977.1:c.1929C>G
  • NM_001407978.1:c.1929C>G
  • NM_001407979.1:c.1926C>G
  • NM_001407980.1:c.1926C>G
  • NM_001407981.1:c.1926C>G
  • NM_001407982.1:c.1926C>G
  • NM_001407983.1:c.1926C>G
  • NM_001407984.1:c.1926C>G
  • NM_001407985.1:c.1926C>G
  • NM_001407986.1:c.1926C>G
  • NM_001407990.1:c.1926C>G
  • NM_001407991.1:c.1926C>G
  • NM_001407992.1:c.1926C>G
  • NM_001407993.1:c.1926C>G
  • NM_001408392.1:c.1923C>G
  • NM_001408396.1:c.1923C>G
  • NM_001408397.1:c.1923C>G
  • NM_001408398.1:c.1923C>G
  • NM_001408399.1:c.1923C>G
  • NM_001408400.1:c.1923C>G
  • NM_001408401.1:c.1923C>G
  • NM_001408402.1:c.1923C>G
  • NM_001408403.1:c.1923C>G
  • NM_001408404.1:c.1923C>G
  • NM_001408406.1:c.1920C>G
  • NM_001408407.1:c.1920C>G
  • NM_001408408.1:c.1920C>G
  • NM_001408409.1:c.1917C>G
  • NM_001408410.1:c.1854C>G
  • NM_001408411.1:c.1851C>G
  • NM_001408412.1:c.1848C>G
  • NM_001408413.1:c.1848C>G
  • NM_001408414.1:c.1848C>G
  • NM_001408415.1:c.1848C>G
  • NM_001408416.1:c.1848C>G
  • NM_001408418.1:c.1812C>G
  • NM_001408419.1:c.1812C>G
  • NM_001408420.1:c.1812C>G
  • NM_001408421.1:c.1809C>G
  • NM_001408422.1:c.1809C>G
  • NM_001408423.1:c.1809C>G
  • NM_001408424.1:c.1809C>G
  • NM_001408425.1:c.1806C>G
  • NM_001408426.1:c.1806C>G
  • NM_001408427.1:c.1806C>G
  • NM_001408428.1:c.1806C>G
  • NM_001408429.1:c.1806C>G
  • NM_001408430.1:c.1806C>G
  • NM_001408431.1:c.1806C>G
  • NM_001408432.1:c.1803C>G
  • NM_001408433.1:c.1803C>G
  • NM_001408434.1:c.1803C>G
  • NM_001408435.1:c.1803C>G
  • NM_001408436.1:c.1803C>G
  • NM_001408437.1:c.1803C>G
  • NM_001408438.1:c.1803C>G
  • NM_001408439.1:c.1803C>G
  • NM_001408440.1:c.1803C>G
  • NM_001408441.1:c.1803C>G
  • NM_001408442.1:c.1803C>G
  • NM_001408443.1:c.1803C>G
  • NM_001408444.1:c.1803C>G
  • NM_001408445.1:c.1800C>G
  • NM_001408446.1:c.1800C>G
  • NM_001408447.1:c.1800C>G
  • NM_001408448.1:c.1800C>G
  • NM_001408450.1:c.1800C>G
  • NM_001408451.1:c.1794C>G
  • NM_001408452.1:c.1788C>G
  • NM_001408453.1:c.1788C>G
  • NM_001408454.1:c.1788C>G
  • NM_001408455.1:c.1788C>G
  • NM_001408456.1:c.1788C>G
  • NM_001408457.1:c.1788C>G
  • NM_001408458.1:c.1785C>G
  • NM_001408459.1:c.1785C>G
  • NM_001408460.1:c.1785C>G
  • NM_001408461.1:c.1785C>G
  • NM_001408462.1:c.1785C>G
  • NM_001408463.1:c.1785C>G
  • NM_001408464.1:c.1785C>G
  • NM_001408465.1:c.1785C>G
  • NM_001408466.1:c.1785C>G
  • NM_001408467.1:c.1785C>G
  • NM_001408468.1:c.1782C>G
  • NM_001408469.1:c.1782C>G
  • NM_001408470.1:c.1782C>G
  • NM_001408472.1:c.1926C>G
  • NM_001408473.1:c.1923C>G
  • NM_001408474.1:c.1728C>G
  • NM_001408475.1:c.1725C>G
  • NM_001408476.1:c.1725C>G
  • NM_001408478.1:c.1719C>G
  • NM_001408479.1:c.1719C>G
  • NM_001408480.1:c.1719C>G
  • NM_001408481.1:c.1716C>G
  • NM_001408482.1:c.1716C>G
  • NM_001408483.1:c.1716C>G
  • NM_001408484.1:c.1716C>G
  • NM_001408485.1:c.1716C>G
  • NM_001408489.1:c.1716C>G
  • NM_001408490.1:c.1716C>G
  • NM_001408491.1:c.1716C>G
  • NM_001408492.1:c.1713C>G
  • NM_001408493.1:c.1713C>G
  • NM_001408494.1:c.1689C>G
  • NM_001408495.1:c.1683C>G
  • NM_001408496.1:c.1665C>G
  • NM_001408497.1:c.1665C>G
  • NM_001408498.1:c.1665C>G
  • NM_001408499.1:c.1665C>G
  • NM_001408500.1:c.1665C>G
  • NM_001408501.1:c.1665C>G
  • NM_001408502.1:c.1662C>G
  • NM_001408503.1:c.1662C>G
  • NM_001408504.1:c.1662C>G
  • NM_001408505.1:c.1659C>G
  • NM_001408506.1:c.1602C>G
  • NM_001408507.1:c.1599C>G
  • NM_001408508.1:c.1590C>G
  • NM_001408509.1:c.1587C>G
  • NM_001408510.1:c.1548C>G
  • NM_001408511.1:c.1545C>G
  • NM_001408512.1:c.1425C>G
  • NM_001408513.1:c.1398C>G
  • NM_001408514.1:c.1002C>G
  • NM_007294.4:c.5238C>GMANE SELECT
  • NM_007297.4:c.5097C>G
  • NM_007298.4:c.1926C>G
  • NM_007299.4:c.1926C>G
  • NM_007300.4:c.5301C>G
  • NM_007304.2:c.1926C>G
  • NP_001394500.1:p.His1675Gln
  • NP_001394510.1:p.His1768Gln
  • NP_001394511.1:p.His1768Gln
  • NP_001394512.1:p.His1767Gln
  • NP_001394514.1:p.His1767Gln
  • NP_001394516.1:p.His1767Gln
  • NP_001394519.1:p.His1766Gln
  • NP_001394520.1:p.His1766Gln
  • NP_001394522.1:p.His1746Gln
  • NP_001394523.1:p.His1746Gln
  • NP_001394525.1:p.His1746Gln
  • NP_001394526.1:p.His1746Gln
  • NP_001394527.1:p.His1746Gln
  • NP_001394531.1:p.His1746Gln
  • NP_001394532.1:p.His1746Gln
  • NP_001394534.1:p.His1746Gln
  • NP_001394539.1:p.His1745Gln
  • NP_001394540.1:p.His1745Gln
  • NP_001394541.1:p.His1745Gln
  • NP_001394542.1:p.His1745Gln
  • NP_001394543.1:p.His1745Gln
  • NP_001394544.1:p.His1745Gln
  • NP_001394545.1:p.His1745Gln
  • NP_001394546.1:p.His1745Gln
  • NP_001394547.1:p.His1745Gln
  • NP_001394548.1:p.His1745Gln
  • NP_001394549.1:p.His1745Gln
  • NP_001394550.1:p.His1745Gln
  • NP_001394551.1:p.His1745Gln
  • NP_001394552.1:p.His1745Gln
  • NP_001394553.1:p.His1745Gln
  • NP_001394554.1:p.His1745Gln
  • NP_001394555.1:p.His1745Gln
  • NP_001394556.1:p.His1744Gln
  • NP_001394557.1:p.His1744Gln
  • NP_001394558.1:p.His1744Gln
  • NP_001394559.1:p.His1744Gln
  • NP_001394560.1:p.His1744Gln
  • NP_001394561.1:p.His1744Gln
  • NP_001394562.1:p.His1744Gln
  • NP_001394563.1:p.His1744Gln
  • NP_001394564.1:p.His1744Gln
  • NP_001394565.1:p.His1744Gln
  • NP_001394566.1:p.His1744Gln
  • NP_001394567.1:p.His1744Gln
  • NP_001394568.1:p.His1744Gln
  • NP_001394569.1:p.His1744Gln
  • NP_001394570.1:p.His1744Gln
  • NP_001394571.1:p.His1744Gln
  • NP_001394573.1:p.His1743Gln
  • NP_001394574.1:p.His1743Gln
  • NP_001394575.1:p.His1742Gln
  • NP_001394576.1:p.His1741Gln
  • NP_001394577.1:p.His1727Gln
  • NP_001394578.1:p.His1726Gln
  • NP_001394581.1:p.His1720Gln
  • NP_001394582.1:p.His1720Gln
  • NP_001394583.1:p.His1720Gln
  • NP_001394584.1:p.His1720Gln
  • NP_001394585.1:p.His1719Gln
  • NP_001394586.1:p.His1719Gln
  • NP_001394587.1:p.His1719Gln
  • NP_001394588.1:p.His1718Gln
  • NP_001394589.1:p.His1718Gln
  • NP_001394590.1:p.His1718Gln
  • NP_001394591.1:p.His1718Gln
  • NP_001394592.1:p.His1718Gln
  • NP_001394593.1:p.His1705Gln
  • NP_001394594.1:p.His1705Gln
  • NP_001394595.1:p.His1705Gln
  • NP_001394596.1:p.His1705Gln
  • NP_001394597.1:p.His1705Gln
  • NP_001394598.1:p.His1705Gln
  • NP_001394599.1:p.His1704Gln
  • NP_001394600.1:p.His1704Gln
  • NP_001394601.1:p.His1704Gln
  • NP_001394602.1:p.His1704Gln
  • NP_001394603.1:p.His1704Gln
  • NP_001394604.1:p.His1704Gln
  • NP_001394605.1:p.His1704Gln
  • NP_001394606.1:p.His1704Gln
  • NP_001394607.1:p.His1704Gln
  • NP_001394608.1:p.His1704Gln
  • NP_001394609.1:p.His1704Gln
  • NP_001394610.1:p.His1703Gln
  • NP_001394611.1:p.His1703Gln
  • NP_001394612.1:p.His1703Gln
  • NP_001394613.1:p.His1746Gln
  • NP_001394614.1:p.His1703Gln
  • NP_001394615.1:p.His1703Gln
  • NP_001394616.1:p.His1703Gln
  • NP_001394617.1:p.His1703Gln
  • NP_001394618.1:p.His1703Gln
  • NP_001394619.1:p.His1702Gln
  • NP_001394620.1:p.His1702Gln
  • NP_001394621.1:p.His1699Gln
  • NP_001394623.1:p.His1699Gln
  • NP_001394624.1:p.His1699Gln
  • NP_001394625.1:p.His1699Gln
  • NP_001394626.1:p.His1699Gln
  • NP_001394627.1:p.His1699Gln
  • NP_001394653.1:p.His1699Gln
  • NP_001394654.1:p.His1699Gln
  • NP_001394655.1:p.His1699Gln
  • NP_001394656.1:p.His1699Gln
  • NP_001394657.1:p.His1699Gln
  • NP_001394658.1:p.His1699Gln
  • NP_001394659.1:p.His1699Gln
  • NP_001394660.1:p.His1699Gln
  • NP_001394661.1:p.His1698Gln
  • NP_001394662.1:p.His1698Gln
  • NP_001394663.1:p.His1698Gln
  • NP_001394664.1:p.His1698Gln
  • NP_001394665.1:p.His1698Gln
  • NP_001394666.1:p.His1698Gln
  • NP_001394667.1:p.His1698Gln
  • NP_001394668.1:p.His1698Gln
  • NP_001394669.1:p.His1698Gln
  • NP_001394670.1:p.His1698Gln
  • NP_001394671.1:p.His1698Gln
  • NP_001394672.1:p.His1698Gln
  • NP_001394673.1:p.His1698Gln
  • NP_001394674.1:p.His1698Gln
  • NP_001394675.1:p.His1698Gln
  • NP_001394676.1:p.His1698Gln
  • NP_001394677.1:p.His1698Gln
  • NP_001394678.1:p.His1698Gln
  • NP_001394679.1:p.His1698Gln
  • NP_001394680.1:p.His1698Gln
  • NP_001394681.1:p.His1698Gln
  • NP_001394767.1:p.His1697Gln
  • NP_001394768.1:p.His1697Gln
  • NP_001394770.1:p.His1697Gln
  • NP_001394771.1:p.His1697Gln
  • NP_001394772.1:p.His1697Gln
  • NP_001394773.1:p.His1697Gln
  • NP_001394774.1:p.His1697Gln
  • NP_001394775.1:p.His1697Gln
  • NP_001394776.1:p.His1697Gln
  • NP_001394777.1:p.His1697Gln
  • NP_001394778.1:p.His1697Gln
  • NP_001394779.1:p.His1697Gln
  • NP_001394780.1:p.His1697Gln
  • NP_001394781.1:p.His1697Gln
  • NP_001394782.1:p.His1697Gln
  • NP_001394783.1:p.His1746Gln
  • NP_001394787.1:p.His1745Gln
  • NP_001394788.1:p.His1745Gln
  • NP_001394789.1:p.His1745Gln
  • NP_001394790.1:p.His1744Gln
  • NP_001394791.1:p.His1679Gln
  • NP_001394792.1:p.His1678Gln
  • NP_001394803.1:p.His1677Gln
  • NP_001394804.1:p.His1677Gln
  • NP_001394808.1:p.His1676Gln
  • NP_001394810.1:p.His1676Gln
  • NP_001394811.1:p.His1676Gln
  • NP_001394813.1:p.His1676Gln
  • NP_001394814.1:p.His1676Gln
  • NP_001394815.1:p.His1676Gln
  • NP_001394816.1:p.His1676Gln
  • NP_001394818.1:p.His1676Gln
  • NP_001394823.1:p.His1675Gln
  • NP_001394824.1:p.His1675Gln
  • NP_001394825.1:p.His1675Gln
  • NP_001394826.1:p.His1675Gln
  • NP_001394827.1:p.His1675Gln
  • NP_001394828.1:p.His1675Gln
  • NP_001394829.1:p.His1675Gln
  • NP_001394831.1:p.His1675Gln
  • NP_001394833.1:p.His1675Gln
  • NP_001394835.1:p.His1675Gln
  • NP_001394836.1:p.His1675Gln
  • NP_001394837.1:p.His1675Gln
  • NP_001394838.1:p.His1675Gln
  • NP_001394839.1:p.His1675Gln
  • NP_001394844.1:p.His1674Gln
  • NP_001394845.1:p.His1674Gln
  • NP_001394846.1:p.His1674Gln
  • NP_001394847.1:p.His1674Gln
  • NP_001394848.1:p.His1705Gln
  • NP_001394849.1:p.His1658Gln
  • NP_001394850.1:p.His1658Gln
  • NP_001394851.1:p.His1658Gln
  • NP_001394852.1:p.His1658Gln
  • NP_001394853.1:p.His1658Gln
  • NP_001394854.1:p.His1658Gln
  • NP_001394855.1:p.His1658Gln
  • NP_001394856.1:p.His1657Gln
  • NP_001394857.1:p.His1657Gln
  • NP_001394858.1:p.His1657Gln
  • NP_001394859.1:p.His1657Gln
  • NP_001394860.1:p.His1657Gln
  • NP_001394861.1:p.His1657Gln
  • NP_001394862.1:p.His1657Gln
  • NP_001394863.1:p.His1656Gln
  • NP_001394864.1:p.His1656Gln
  • NP_001394865.1:p.His1656Gln
  • NP_001394866.1:p.His1705Gln
  • NP_001394867.1:p.His1705Gln
  • NP_001394868.1:p.His1704Gln
  • NP_001394869.1:p.His1704Gln
  • NP_001394870.1:p.His1703Gln
  • NP_001394871.1:p.His1699Gln
  • NP_001394872.1:p.His1698Gln
  • NP_001394873.1:p.His1698Gln
  • NP_001394874.1:p.His1698Gln
  • NP_001394875.1:p.His1635Gln
  • NP_001394876.1:p.His1635Gln
  • NP_001394877.1:p.His1635Gln
  • NP_001394878.1:p.His1635Gln
  • NP_001394879.1:p.His1634Gln
  • NP_001394880.1:p.His1634Gln
  • NP_001394881.1:p.His1634Gln
  • NP_001394882.1:p.His1634Gln
  • NP_001394883.1:p.His1634Gln
  • NP_001394884.1:p.His1634Gln
  • NP_001394885.1:p.His1633Gln
  • NP_001394886.1:p.His1633Gln
  • NP_001394887.1:p.His1633Gln
  • NP_001394888.1:p.His1619Gln
  • NP_001394889.1:p.His1618Gln
  • NP_001394891.1:p.His1618Gln
  • NP_001394892.1:p.His1617Gln
  • NP_001394893.1:p.His1592Gln
  • NP_001394894.1:p.His1577Gln
  • NP_001394895.1:p.His1450Gln
  • NP_001394896.1:p.His1449Gln
  • NP_001394897.1:p.His878Gln
  • NP_001394898.1:p.His877Gln
  • NP_001394899.1:p.His665Gln
  • NP_001394900.1:p.His665Gln
  • NP_001394901.1:p.His664Gln
  • NP_001394902.1:p.His643Gln
  • NP_001394903.1:p.His643Gln
  • NP_001394904.1:p.His643Gln
  • NP_001394905.1:p.His643Gln
  • NP_001394906.1:p.His643Gln
  • NP_001394907.1:p.His643Gln
  • NP_001394908.1:p.His642Gln
  • NP_001394909.1:p.His642Gln
  • NP_001394910.1:p.His642Gln
  • NP_001394911.1:p.His642Gln
  • NP_001394912.1:p.His642Gln
  • NP_001394913.1:p.His642Gln
  • NP_001394914.1:p.His642Gln
  • NP_001394915.1:p.His642Gln
  • NP_001394919.1:p.His642Gln
  • NP_001394920.1:p.His642Gln
  • NP_001394921.1:p.His642Gln
  • NP_001394922.1:p.His642Gln
  • NP_001395321.1:p.His641Gln
  • NP_001395325.1:p.His641Gln
  • NP_001395326.1:p.His641Gln
  • NP_001395327.1:p.His641Gln
  • NP_001395328.1:p.His641Gln
  • NP_001395329.1:p.His641Gln
  • NP_001395330.1:p.His641Gln
  • NP_001395331.1:p.His641Gln
  • NP_001395332.1:p.His641Gln
  • NP_001395333.1:p.His641Gln
  • NP_001395335.1:p.His640Gln
  • NP_001395336.1:p.His640Gln
  • NP_001395337.1:p.His640Gln
  • NP_001395338.1:p.His639Gln
  • NP_001395339.1:p.His618Gln
  • NP_001395340.1:p.His617Gln
  • NP_001395341.1:p.His616Gln
  • NP_001395342.1:p.His616Gln
  • NP_001395343.1:p.His616Gln
  • NP_001395344.1:p.His616Gln
  • NP_001395345.1:p.His616Gln
  • NP_001395347.1:p.His604Gln
  • NP_001395348.1:p.His604Gln
  • NP_001395349.1:p.His604Gln
  • NP_001395350.1:p.His603Gln
  • NP_001395351.1:p.His603Gln
  • NP_001395352.1:p.His603Gln
  • NP_001395353.1:p.His603Gln
  • NP_001395354.1:p.His602Gln
  • NP_001395355.1:p.His602Gln
  • NP_001395356.1:p.His602Gln
  • NP_001395357.1:p.His602Gln
  • NP_001395358.1:p.His602Gln
  • NP_001395359.1:p.His602Gln
  • NP_001395360.1:p.His602Gln
  • NP_001395361.1:p.His601Gln
  • NP_001395362.1:p.His601Gln
  • NP_001395363.1:p.His601Gln
  • NP_001395364.1:p.His601Gln
  • NP_001395365.1:p.His601Gln
  • NP_001395366.1:p.His601Gln
  • NP_001395367.1:p.His601Gln
  • NP_001395368.1:p.His601Gln
  • NP_001395369.1:p.His601Gln
  • NP_001395370.1:p.His601Gln
  • NP_001395371.1:p.His601Gln
  • NP_001395372.1:p.His601Gln
  • NP_001395373.1:p.His601Gln
  • NP_001395374.1:p.His600Gln
  • NP_001395375.1:p.His600Gln
  • NP_001395376.1:p.His600Gln
  • NP_001395377.1:p.His600Gln
  • NP_001395379.1:p.His600Gln
  • NP_001395380.1:p.His598Gln
  • NP_001395381.1:p.His596Gln
  • NP_001395382.1:p.His596Gln
  • NP_001395383.1:p.His596Gln
  • NP_001395384.1:p.His596Gln
  • NP_001395385.1:p.His596Gln
  • NP_001395386.1:p.His596Gln
  • NP_001395387.1:p.His595Gln
  • NP_001395388.1:p.His595Gln
  • NP_001395389.1:p.His595Gln
  • NP_001395390.1:p.His595Gln
  • NP_001395391.1:p.His595Gln
  • NP_001395392.1:p.His595Gln
  • NP_001395393.1:p.His595Gln
  • NP_001395394.1:p.His595Gln
  • NP_001395395.1:p.His595Gln
  • NP_001395396.1:p.His595Gln
  • NP_001395397.1:p.His594Gln
  • NP_001395398.1:p.His594Gln
  • NP_001395399.1:p.His594Gln
  • NP_001395401.1:p.His642Gln
  • NP_001395402.1:p.His641Gln
  • NP_001395403.1:p.His576Gln
  • NP_001395404.1:p.His575Gln
  • NP_001395405.1:p.His575Gln
  • NP_001395407.1:p.His573Gln
  • NP_001395408.1:p.His573Gln
  • NP_001395409.1:p.His573Gln
  • NP_001395410.1:p.His572Gln
  • NP_001395411.1:p.His572Gln
  • NP_001395412.1:p.His572Gln
  • NP_001395413.1:p.His572Gln
  • NP_001395414.1:p.His572Gln
  • NP_001395418.1:p.His572Gln
  • NP_001395419.1:p.His572Gln
  • NP_001395420.1:p.His572Gln
  • NP_001395421.1:p.His571Gln
  • NP_001395422.1:p.His571Gln
  • NP_001395423.1:p.His563Gln
  • NP_001395424.1:p.His561Gln
  • NP_001395425.1:p.His555Gln
  • NP_001395426.1:p.His555Gln
  • NP_001395427.1:p.His555Gln
  • NP_001395428.1:p.His555Gln
  • NP_001395429.1:p.His555Gln
  • NP_001395430.1:p.His555Gln
  • NP_001395431.1:p.His554Gln
  • NP_001395432.1:p.His554Gln
  • NP_001395433.1:p.His554Gln
  • NP_001395434.1:p.His553Gln
  • NP_001395435.1:p.His534Gln
  • NP_001395436.1:p.His533Gln
  • NP_001395437.1:p.His530Gln
  • NP_001395438.1:p.His529Gln
  • NP_001395439.1:p.His516Gln
  • NP_001395440.1:p.His515Gln
  • NP_001395441.1:p.His475Gln
  • NP_001395442.1:p.His466Gln
  • NP_001395443.1:p.His334Gln
  • NP_009225.1:p.His1746Gln
  • NP_009225.1:p.His1746Gln
  • NP_009228.2:p.His1699Gln
  • NP_009229.2:p.His642Gln
  • NP_009229.2:p.His642Gln
  • NP_009230.2:p.His642Gln
  • NP_009231.2:p.His1767Gln
  • NP_009235.2:p.His642Gln
  • LRG_292t1:c.5238C>G
  • LRG_292:g.160893C>G
  • LRG_292p1:p.His1746Gln
  • NC_000017.10:g.41209108G>C
  • NM_007294.3:c.5238C>G
  • NM_007298.3:c.1926C>G
  • NR_027676.2:n.5415C>G
  • P38398:p.His1746Gln
  • p.H1746Q
Protein change:
H1449Q
Links:
UniProtKB: P38398#VAR_070509; dbSNP: rs786202389
NCBI 1000 Genomes Browser:
rs786202389
Molecular consequence:
  • NM_001407571.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5304C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5304C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5301C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5301C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5301C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5229C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5229C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5226C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5223C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5181C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5178C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5106C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5106C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5091C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5034C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5031C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5031C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5028C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5025C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5022C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5022C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5022C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5022C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4971C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5094C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4899C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4899C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4899C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4857C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4854C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4854C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4851C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4776C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4350C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4347C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2634C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2631C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1995C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1995C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1992C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1917C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1854C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1851C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1848C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1848C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1848C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1848C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1848C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1809C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1809C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1809C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1809C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1803C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1794C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1788C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1785C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1728C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1725C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1725C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1719C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1719C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1719C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1689C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1683C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1662C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1662C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1662C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1659C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1602C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1590C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1587C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1398C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1002C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5097C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5301C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5415C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003258287Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 12, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]
PMID:
23867111

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.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003258287.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1746 of the BRCA1 protein (p.His1746Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 185702). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 23867111, 30209399, 32546644). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024