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NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV001350265.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)]

NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)

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.4997A>G (p.Tyr1666Cys)
HGVS:
  • NC_000017.11:g.43067685T>C
  • NG_005905.2:g.150299A>G
  • NM_001407571.1:c.4784A>G
  • NM_001407581.1:c.5063A>G
  • NM_001407582.1:c.5063A>G
  • NM_001407583.1:c.5060A>G
  • NM_001407585.1:c.5060A>G
  • NM_001407587.1:c.5060A>G
  • NM_001407590.1:c.5057A>G
  • NM_001407591.1:c.5057A>G
  • NM_001407593.1:c.4997A>G
  • NM_001407594.1:c.4997A>G
  • NM_001407596.1:c.4997A>G
  • NM_001407597.1:c.4997A>G
  • NM_001407598.1:c.4997A>G
  • NM_001407602.1:c.4997A>G
  • NM_001407603.1:c.4997A>G
  • NM_001407605.1:c.4997A>G
  • NM_001407610.1:c.4994A>G
  • NM_001407611.1:c.4994A>G
  • NM_001407612.1:c.4994A>G
  • NM_001407613.1:c.4994A>G
  • NM_001407614.1:c.4994A>G
  • NM_001407615.1:c.4994A>G
  • NM_001407616.1:c.4994A>G
  • NM_001407617.1:c.4994A>G
  • NM_001407618.1:c.4994A>G
  • NM_001407619.1:c.4994A>G
  • NM_001407620.1:c.4994A>G
  • NM_001407621.1:c.4994A>G
  • NM_001407622.1:c.4994A>G
  • NM_001407623.1:c.4994A>G
  • NM_001407624.1:c.4994A>G
  • NM_001407625.1:c.4994A>G
  • NM_001407626.1:c.4994A>G
  • NM_001407627.1:c.4991A>G
  • NM_001407628.1:c.4991A>G
  • NM_001407629.1:c.4991A>G
  • NM_001407630.1:c.4991A>G
  • NM_001407631.1:c.4991A>G
  • NM_001407632.1:c.4991A>G
  • NM_001407633.1:c.4991A>G
  • NM_001407634.1:c.4991A>G
  • NM_001407635.1:c.4991A>G
  • NM_001407636.1:c.4991A>G
  • NM_001407637.1:c.4991A>G
  • NM_001407638.1:c.4991A>G
  • NM_001407639.1:c.4991A>G
  • NM_001407640.1:c.4991A>G
  • NM_001407641.1:c.4991A>G
  • NM_001407642.1:c.4991A>G
  • NM_001407644.1:c.4988A>G
  • NM_001407645.1:c.4988A>G
  • NM_001407646.1:c.4985A>G
  • NM_001407647.1:c.4982A>G
  • NM_001407648.1:c.4940A>G
  • NM_001407649.1:c.4937A>G
  • NM_001407652.1:c.4997A>G
  • NM_001407653.1:c.4919A>G
  • NM_001407654.1:c.4919A>G
  • NM_001407655.1:c.4919A>G
  • NM_001407656.1:c.4916A>G
  • NM_001407657.1:c.4916A>G
  • NM_001407658.1:c.4916A>G
  • NM_001407659.1:c.4913A>G
  • NM_001407660.1:c.4913A>G
  • NM_001407661.1:c.4913A>G
  • NM_001407662.1:c.4913A>G
  • NM_001407663.1:c.4913A>G
  • NM_001407664.1:c.4874A>G
  • NM_001407665.1:c.4874A>G
  • NM_001407666.1:c.4874A>G
  • NM_001407667.1:c.4874A>G
  • NM_001407668.1:c.4874A>G
  • NM_001407669.1:c.4874A>G
  • NM_001407670.1:c.4871A>G
  • NM_001407671.1:c.4871A>G
  • NM_001407672.1:c.4871A>G
  • NM_001407673.1:c.4871A>G
  • NM_001407674.1:c.4871A>G
  • NM_001407675.1:c.4871A>G
  • NM_001407676.1:c.4871A>G
  • NM_001407677.1:c.4871A>G
  • NM_001407678.1:c.4871A>G
  • NM_001407679.1:c.4871A>G
  • NM_001407680.1:c.4871A>G
  • NM_001407681.1:c.4868A>G
  • NM_001407682.1:c.4868A>G
  • NM_001407683.1:c.4868A>G
  • NM_001407684.1:c.4997A>G
  • NM_001407685.1:c.4868A>G
  • NM_001407686.1:c.4868A>G
  • NM_001407687.1:c.4868A>G
  • NM_001407688.1:c.4868A>G
  • NM_001407689.1:c.4868A>G
  • NM_001407690.1:c.4865A>G
  • NM_001407691.1:c.4865A>G
  • NM_001407692.1:c.4856A>G
  • NM_001407694.1:c.4856A>G
  • NM_001407695.1:c.4856A>G
  • NM_001407696.1:c.4856A>G
  • NM_001407697.1:c.4856A>G
  • NM_001407698.1:c.4856A>G
  • NM_001407724.1:c.4856A>G
  • NM_001407725.1:c.4856A>G
  • NM_001407726.1:c.4856A>G
  • NM_001407727.1:c.4856A>G
  • NM_001407728.1:c.4856A>G
  • NM_001407729.1:c.4856A>G
  • NM_001407730.1:c.4856A>G
  • NM_001407731.1:c.4856A>G
  • NM_001407732.1:c.4853A>G
  • NM_001407733.1:c.4853A>G
  • NM_001407734.1:c.4853A>G
  • NM_001407735.1:c.4853A>G
  • NM_001407736.1:c.4853A>G
  • NM_001407737.1:c.4853A>G
  • NM_001407738.1:c.4853A>G
  • NM_001407739.1:c.4853A>G
  • NM_001407740.1:c.4853A>G
  • NM_001407741.1:c.4853A>G
  • NM_001407742.1:c.4853A>G
  • NM_001407743.1:c.4853A>G
  • NM_001407744.1:c.4853A>G
  • NM_001407745.1:c.4853A>G
  • NM_001407746.1:c.4853A>G
  • NM_001407747.1:c.4853A>G
  • NM_001407748.1:c.4853A>G
  • NM_001407749.1:c.4853A>G
  • NM_001407750.1:c.4853A>G
  • NM_001407751.1:c.4853A>G
  • NM_001407752.1:c.4853A>G
  • NM_001407838.1:c.4850A>G
  • NM_001407839.1:c.4850A>G
  • NM_001407841.1:c.4850A>G
  • NM_001407842.1:c.4850A>G
  • NM_001407843.1:c.4850A>G
  • NM_001407844.1:c.4850A>G
  • NM_001407845.1:c.4850A>G
  • NM_001407846.1:c.4850A>G
  • NM_001407847.1:c.4850A>G
  • NM_001407848.1:c.4850A>G
  • NM_001407849.1:c.4850A>G
  • NM_001407850.1:c.4850A>G
  • NM_001407851.1:c.4850A>G
  • NM_001407852.1:c.4850A>G
  • NM_001407853.1:c.4850A>G
  • NM_001407854.1:c.4997A>G
  • NM_001407858.1:c.4994A>G
  • NM_001407859.1:c.4994A>G
  • NM_001407860.1:c.4994A>G
  • NM_001407861.1:c.4991A>G
  • NM_001407862.1:c.4796A>G
  • NM_001407863.1:c.4871A>G
  • NM_001407874.1:c.4790A>G
  • NM_001407875.1:c.4790A>G
  • NM_001407879.1:c.4787A>G
  • NM_001407881.1:c.4787A>G
  • NM_001407882.1:c.4787A>G
  • NM_001407884.1:c.4787A>G
  • NM_001407885.1:c.4787A>G
  • NM_001407886.1:c.4787A>G
  • NM_001407887.1:c.4787A>G
  • NM_001407889.1:c.4787A>G
  • NM_001407894.1:c.4784A>G
  • NM_001407895.1:c.4784A>G
  • NM_001407896.1:c.4784A>G
  • NM_001407897.1:c.4784A>G
  • NM_001407898.1:c.4784A>G
  • NM_001407899.1:c.4784A>G
  • NM_001407900.1:c.4784A>G
  • NM_001407902.1:c.4784A>G
  • NM_001407904.1:c.4784A>G
  • NM_001407906.1:c.4784A>G
  • NM_001407907.1:c.4784A>G
  • NM_001407908.1:c.4784A>G
  • NM_001407909.1:c.4784A>G
  • NM_001407910.1:c.4784A>G
  • NM_001407915.1:c.4781A>G
  • NM_001407916.1:c.4781A>G
  • NM_001407917.1:c.4781A>G
  • NM_001407918.1:c.4781A>G
  • NM_001407919.1:c.4874A>G
  • NM_001407920.1:c.4733A>G
  • NM_001407921.1:c.4733A>G
  • NM_001407922.1:c.4733A>G
  • NM_001407923.1:c.4733A>G
  • NM_001407924.1:c.4733A>G
  • NM_001407925.1:c.4733A>G
  • NM_001407926.1:c.4733A>G
  • NM_001407927.1:c.4730A>G
  • NM_001407928.1:c.4730A>G
  • NM_001407929.1:c.4730A>G
  • NM_001407930.1:c.4730A>G
  • NM_001407931.1:c.4730A>G
  • NM_001407932.1:c.4730A>G
  • NM_001407933.1:c.4730A>G
  • NM_001407934.1:c.4727A>G
  • NM_001407935.1:c.4727A>G
  • NM_001407936.1:c.4727A>G
  • NM_001407937.1:c.4874A>G
  • NM_001407938.1:c.4874A>G
  • NM_001407939.1:c.4871A>G
  • NM_001407940.1:c.4871A>G
  • NM_001407941.1:c.4868A>G
  • NM_001407942.1:c.4856A>G
  • NM_001407943.1:c.4853A>G
  • NM_001407944.1:c.4853A>G
  • NM_001407945.1:c.4853A>G
  • NM_001407946.1:c.4664A>G
  • NM_001407947.1:c.4664A>G
  • NM_001407948.1:c.4664A>G
  • NM_001407949.1:c.4664A>G
  • NM_001407950.1:c.4661A>G
  • NM_001407951.1:c.4661A>G
  • NM_001407952.1:c.4661A>G
  • NM_001407953.1:c.4661A>G
  • NM_001407954.1:c.4661A>G
  • NM_001407955.1:c.4661A>G
  • NM_001407956.1:c.4658A>G
  • NM_001407957.1:c.4658A>G
  • NM_001407958.1:c.4658A>G
  • NM_001407959.1:c.4616A>G
  • NM_001407960.1:c.4613A>G
  • NM_001407962.1:c.4613A>G
  • NM_001407963.1:c.4610A>G
  • NM_001407964.1:c.4535A>G
  • NM_001407965.1:c.4490A>G
  • NM_001407966.1:c.4109A>G
  • NM_001407967.1:c.4106A>G
  • NM_001407968.1:c.2393A>G
  • NM_001407969.1:c.2390A>G
  • NM_001407970.1:c.1754A>G
  • NM_001407971.1:c.1754A>G
  • NM_001407972.1:c.1751A>G
  • NM_001407973.1:c.1688A>G
  • NM_001407974.1:c.1688A>G
  • NM_001407975.1:c.1688A>G
  • NM_001407976.1:c.1688A>G
  • NM_001407977.1:c.1688A>G
  • NM_001407978.1:c.1688A>G
  • NM_001407979.1:c.1685A>G
  • NM_001407980.1:c.1685A>G
  • NM_001407981.1:c.1685A>G
  • NM_001407982.1:c.1685A>G
  • NM_001407983.1:c.1685A>G
  • NM_001407984.1:c.1685A>G
  • NM_001407985.1:c.1685A>G
  • NM_001407986.1:c.1685A>G
  • NM_001407990.1:c.1685A>G
  • NM_001407991.1:c.1685A>G
  • NM_001407992.1:c.1685A>G
  • NM_001407993.1:c.1685A>G
  • NM_001408392.1:c.1682A>G
  • NM_001408396.1:c.1682A>G
  • NM_001408397.1:c.1682A>G
  • NM_001408398.1:c.1682A>G
  • NM_001408399.1:c.1682A>G
  • NM_001408400.1:c.1682A>G
  • NM_001408401.1:c.1682A>G
  • NM_001408402.1:c.1682A>G
  • NM_001408403.1:c.1682A>G
  • NM_001408404.1:c.1682A>G
  • NM_001408406.1:c.1679A>G
  • NM_001408407.1:c.1679A>G
  • NM_001408408.1:c.1679A>G
  • NM_001408409.1:c.1676A>G
  • NM_001408410.1:c.1613A>G
  • NM_001408411.1:c.1610A>G
  • NM_001408412.1:c.1607A>G
  • NM_001408413.1:c.1607A>G
  • NM_001408414.1:c.1607A>G
  • NM_001408415.1:c.1607A>G
  • NM_001408416.1:c.1607A>G
  • NM_001408418.1:c.1571A>G
  • NM_001408419.1:c.1571A>G
  • NM_001408420.1:c.1571A>G
  • NM_001408421.1:c.1568A>G
  • NM_001408422.1:c.1568A>G
  • NM_001408423.1:c.1568A>G
  • NM_001408424.1:c.1568A>G
  • NM_001408425.1:c.1565A>G
  • NM_001408426.1:c.1565A>G
  • NM_001408427.1:c.1565A>G
  • NM_001408428.1:c.1565A>G
  • NM_001408429.1:c.1565A>G
  • NM_001408430.1:c.1565A>G
  • NM_001408431.1:c.1565A>G
  • NM_001408432.1:c.1562A>G
  • NM_001408433.1:c.1562A>G
  • NM_001408434.1:c.1562A>G
  • NM_001408435.1:c.1562A>G
  • NM_001408436.1:c.1562A>G
  • NM_001408437.1:c.1562A>G
  • NM_001408438.1:c.1562A>G
  • NM_001408439.1:c.1562A>G
  • NM_001408440.1:c.1562A>G
  • NM_001408441.1:c.1562A>G
  • NM_001408442.1:c.1562A>G
  • NM_001408443.1:c.1562A>G
  • NM_001408444.1:c.1562A>G
  • NM_001408445.1:c.1559A>G
  • NM_001408446.1:c.1559A>G
  • NM_001408447.1:c.1559A>G
  • NM_001408448.1:c.1559A>G
  • NM_001408450.1:c.1559A>G
  • NM_001408451.1:c.1553A>G
  • NM_001408452.1:c.1547A>G
  • NM_001408453.1:c.1547A>G
  • NM_001408454.1:c.1547A>G
  • NM_001408455.1:c.1547A>G
  • NM_001408456.1:c.1547A>G
  • NM_001408457.1:c.1547A>G
  • NM_001408458.1:c.1544A>G
  • NM_001408459.1:c.1544A>G
  • NM_001408460.1:c.1544A>G
  • NM_001408461.1:c.1544A>G
  • NM_001408462.1:c.1544A>G
  • NM_001408463.1:c.1544A>G
  • NM_001408464.1:c.1544A>G
  • NM_001408465.1:c.1544A>G
  • NM_001408466.1:c.1544A>G
  • NM_001408467.1:c.1544A>G
  • NM_001408468.1:c.1541A>G
  • NM_001408469.1:c.1541A>G
  • NM_001408470.1:c.1541A>G
  • NM_001408472.1:c.1685A>G
  • NM_001408473.1:c.1682A>G
  • NM_001408474.1:c.1487A>G
  • NM_001408475.1:c.1484A>G
  • NM_001408476.1:c.1484A>G
  • NM_001408478.1:c.1478A>G
  • NM_001408479.1:c.1478A>G
  • NM_001408480.1:c.1478A>G
  • NM_001408481.1:c.1475A>G
  • NM_001408482.1:c.1475A>G
  • NM_001408483.1:c.1475A>G
  • NM_001408484.1:c.1475A>G
  • NM_001408485.1:c.1475A>G
  • NM_001408489.1:c.1475A>G
  • NM_001408490.1:c.1475A>G
  • NM_001408491.1:c.1475A>G
  • NM_001408492.1:c.1472A>G
  • NM_001408493.1:c.1472A>G
  • NM_001408494.1:c.1448A>G
  • NM_001408495.1:c.1442A>G
  • NM_001408496.1:c.1424A>G
  • NM_001408497.1:c.1424A>G
  • NM_001408498.1:c.1424A>G
  • NM_001408499.1:c.1424A>G
  • NM_001408500.1:c.1424A>G
  • NM_001408501.1:c.1424A>G
  • NM_001408502.1:c.1421A>G
  • NM_001408503.1:c.1421A>G
  • NM_001408504.1:c.1421A>G
  • NM_001408505.1:c.1418A>G
  • NM_001408506.1:c.1361A>G
  • NM_001408507.1:c.1358A>G
  • NM_001408508.1:c.1349A>G
  • NM_001408509.1:c.1346A>G
  • NM_001408510.1:c.1307A>G
  • NM_001408511.1:c.1304A>G
  • NM_001408512.1:c.1184A>G
  • NM_001408513.1:c.1157A>G
  • NM_007294.4:c.4997A>GMANE SELECT
  • NM_007297.4:c.4856A>G
  • NM_007298.4:c.1685A>G
  • NM_007299.4:c.1685A>G
  • NM_007300.4:c.5060A>G
  • NM_007304.2:c.1685A>G
  • NP_001394500.1:p.Tyr1595Cys
  • NP_001394510.1:p.Tyr1688Cys
  • NP_001394511.1:p.Tyr1688Cys
  • NP_001394512.1:p.Tyr1687Cys
  • NP_001394514.1:p.Tyr1687Cys
  • NP_001394516.1:p.Tyr1687Cys
  • NP_001394519.1:p.Tyr1686Cys
  • NP_001394520.1:p.Tyr1686Cys
  • NP_001394522.1:p.Tyr1666Cys
  • NP_001394523.1:p.Tyr1666Cys
  • NP_001394525.1:p.Tyr1666Cys
  • NP_001394526.1:p.Tyr1666Cys
  • NP_001394527.1:p.Tyr1666Cys
  • NP_001394531.1:p.Tyr1666Cys
  • NP_001394532.1:p.Tyr1666Cys
  • NP_001394534.1:p.Tyr1666Cys
  • NP_001394539.1:p.Tyr1665Cys
  • NP_001394540.1:p.Tyr1665Cys
  • NP_001394541.1:p.Tyr1665Cys
  • NP_001394542.1:p.Tyr1665Cys
  • NP_001394543.1:p.Tyr1665Cys
  • NP_001394544.1:p.Tyr1665Cys
  • NP_001394545.1:p.Tyr1665Cys
  • NP_001394546.1:p.Tyr1665Cys
  • NP_001394547.1:p.Tyr1665Cys
  • NP_001394548.1:p.Tyr1665Cys
  • NP_001394549.1:p.Tyr1665Cys
  • NP_001394550.1:p.Tyr1665Cys
  • NP_001394551.1:p.Tyr1665Cys
  • NP_001394552.1:p.Tyr1665Cys
  • NP_001394553.1:p.Tyr1665Cys
  • NP_001394554.1:p.Tyr1665Cys
  • NP_001394555.1:p.Tyr1665Cys
  • NP_001394556.1:p.Tyr1664Cys
  • NP_001394557.1:p.Tyr1664Cys
  • NP_001394558.1:p.Tyr1664Cys
  • NP_001394559.1:p.Tyr1664Cys
  • NP_001394560.1:p.Tyr1664Cys
  • NP_001394561.1:p.Tyr1664Cys
  • NP_001394562.1:p.Tyr1664Cys
  • NP_001394563.1:p.Tyr1664Cys
  • NP_001394564.1:p.Tyr1664Cys
  • NP_001394565.1:p.Tyr1664Cys
  • NP_001394566.1:p.Tyr1664Cys
  • NP_001394567.1:p.Tyr1664Cys
  • NP_001394568.1:p.Tyr1664Cys
  • NP_001394569.1:p.Tyr1664Cys
  • NP_001394570.1:p.Tyr1664Cys
  • NP_001394571.1:p.Tyr1664Cys
  • NP_001394573.1:p.Tyr1663Cys
  • NP_001394574.1:p.Tyr1663Cys
  • NP_001394575.1:p.Tyr1662Cys
  • NP_001394576.1:p.Tyr1661Cys
  • NP_001394577.1:p.Tyr1647Cys
  • NP_001394578.1:p.Tyr1646Cys
  • NP_001394581.1:p.Tyr1666Cys
  • NP_001394582.1:p.Tyr1640Cys
  • NP_001394583.1:p.Tyr1640Cys
  • NP_001394584.1:p.Tyr1640Cys
  • NP_001394585.1:p.Tyr1639Cys
  • NP_001394586.1:p.Tyr1639Cys
  • NP_001394587.1:p.Tyr1639Cys
  • NP_001394588.1:p.Tyr1638Cys
  • NP_001394589.1:p.Tyr1638Cys
  • NP_001394590.1:p.Tyr1638Cys
  • NP_001394591.1:p.Tyr1638Cys
  • NP_001394592.1:p.Tyr1638Cys
  • NP_001394593.1:p.Tyr1625Cys
  • NP_001394594.1:p.Tyr1625Cys
  • NP_001394595.1:p.Tyr1625Cys
  • NP_001394596.1:p.Tyr1625Cys
  • NP_001394597.1:p.Tyr1625Cys
  • NP_001394598.1:p.Tyr1625Cys
  • NP_001394599.1:p.Tyr1624Cys
  • NP_001394600.1:p.Tyr1624Cys
  • NP_001394601.1:p.Tyr1624Cys
  • NP_001394602.1:p.Tyr1624Cys
  • NP_001394603.1:p.Tyr1624Cys
  • NP_001394604.1:p.Tyr1624Cys
  • NP_001394605.1:p.Tyr1624Cys
  • NP_001394606.1:p.Tyr1624Cys
  • NP_001394607.1:p.Tyr1624Cys
  • NP_001394608.1:p.Tyr1624Cys
  • NP_001394609.1:p.Tyr1624Cys
  • NP_001394610.1:p.Tyr1623Cys
  • NP_001394611.1:p.Tyr1623Cys
  • NP_001394612.1:p.Tyr1623Cys
  • NP_001394613.1:p.Tyr1666Cys
  • NP_001394614.1:p.Tyr1623Cys
  • NP_001394615.1:p.Tyr1623Cys
  • NP_001394616.1:p.Tyr1623Cys
  • NP_001394617.1:p.Tyr1623Cys
  • NP_001394618.1:p.Tyr1623Cys
  • NP_001394619.1:p.Tyr1622Cys
  • NP_001394620.1:p.Tyr1622Cys
  • NP_001394621.1:p.Tyr1619Cys
  • NP_001394623.1:p.Tyr1619Cys
  • NP_001394624.1:p.Tyr1619Cys
  • NP_001394625.1:p.Tyr1619Cys
  • NP_001394626.1:p.Tyr1619Cys
  • NP_001394627.1:p.Tyr1619Cys
  • NP_001394653.1:p.Tyr1619Cys
  • NP_001394654.1:p.Tyr1619Cys
  • NP_001394655.1:p.Tyr1619Cys
  • NP_001394656.1:p.Tyr1619Cys
  • NP_001394657.1:p.Tyr1619Cys
  • NP_001394658.1:p.Tyr1619Cys
  • NP_001394659.1:p.Tyr1619Cys
  • NP_001394660.1:p.Tyr1619Cys
  • NP_001394661.1:p.Tyr1618Cys
  • NP_001394662.1:p.Tyr1618Cys
  • NP_001394663.1:p.Tyr1618Cys
  • NP_001394664.1:p.Tyr1618Cys
  • NP_001394665.1:p.Tyr1618Cys
  • NP_001394666.1:p.Tyr1618Cys
  • NP_001394667.1:p.Tyr1618Cys
  • NP_001394668.1:p.Tyr1618Cys
  • NP_001394669.1:p.Tyr1618Cys
  • NP_001394670.1:p.Tyr1618Cys
  • NP_001394671.1:p.Tyr1618Cys
  • NP_001394672.1:p.Tyr1618Cys
  • NP_001394673.1:p.Tyr1618Cys
  • NP_001394674.1:p.Tyr1618Cys
  • NP_001394675.1:p.Tyr1618Cys
  • NP_001394676.1:p.Tyr1618Cys
  • NP_001394677.1:p.Tyr1618Cys
  • NP_001394678.1:p.Tyr1618Cys
  • NP_001394679.1:p.Tyr1618Cys
  • NP_001394680.1:p.Tyr1618Cys
  • NP_001394681.1:p.Tyr1618Cys
  • NP_001394767.1:p.Tyr1617Cys
  • NP_001394768.1:p.Tyr1617Cys
  • NP_001394770.1:p.Tyr1617Cys
  • NP_001394771.1:p.Tyr1617Cys
  • NP_001394772.1:p.Tyr1617Cys
  • NP_001394773.1:p.Tyr1617Cys
  • NP_001394774.1:p.Tyr1617Cys
  • NP_001394775.1:p.Tyr1617Cys
  • NP_001394776.1:p.Tyr1617Cys
  • NP_001394777.1:p.Tyr1617Cys
  • NP_001394778.1:p.Tyr1617Cys
  • NP_001394779.1:p.Tyr1617Cys
  • NP_001394780.1:p.Tyr1617Cys
  • NP_001394781.1:p.Tyr1617Cys
  • NP_001394782.1:p.Tyr1617Cys
  • NP_001394783.1:p.Tyr1666Cys
  • NP_001394787.1:p.Tyr1665Cys
  • NP_001394788.1:p.Tyr1665Cys
  • NP_001394789.1:p.Tyr1665Cys
  • NP_001394790.1:p.Tyr1664Cys
  • NP_001394791.1:p.Tyr1599Cys
  • NP_001394792.1:p.Tyr1624Cys
  • NP_001394803.1:p.Tyr1597Cys
  • NP_001394804.1:p.Tyr1597Cys
  • NP_001394808.1:p.Tyr1596Cys
  • NP_001394810.1:p.Tyr1596Cys
  • NP_001394811.1:p.Tyr1596Cys
  • NP_001394813.1:p.Tyr1596Cys
  • NP_001394814.1:p.Tyr1596Cys
  • NP_001394815.1:p.Tyr1596Cys
  • NP_001394816.1:p.Tyr1596Cys
  • NP_001394818.1:p.Tyr1596Cys
  • NP_001394823.1:p.Tyr1595Cys
  • NP_001394824.1:p.Tyr1595Cys
  • NP_001394825.1:p.Tyr1595Cys
  • NP_001394826.1:p.Tyr1595Cys
  • NP_001394827.1:p.Tyr1595Cys
  • NP_001394828.1:p.Tyr1595Cys
  • NP_001394829.1:p.Tyr1595Cys
  • NP_001394831.1:p.Tyr1595Cys
  • NP_001394833.1:p.Tyr1595Cys
  • NP_001394835.1:p.Tyr1595Cys
  • NP_001394836.1:p.Tyr1595Cys
  • NP_001394837.1:p.Tyr1595Cys
  • NP_001394838.1:p.Tyr1595Cys
  • NP_001394839.1:p.Tyr1595Cys
  • NP_001394844.1:p.Tyr1594Cys
  • NP_001394845.1:p.Tyr1594Cys
  • NP_001394846.1:p.Tyr1594Cys
  • NP_001394847.1:p.Tyr1594Cys
  • NP_001394848.1:p.Tyr1625Cys
  • NP_001394849.1:p.Tyr1578Cys
  • NP_001394850.1:p.Tyr1578Cys
  • NP_001394851.1:p.Tyr1578Cys
  • NP_001394852.1:p.Tyr1578Cys
  • NP_001394853.1:p.Tyr1578Cys
  • NP_001394854.1:p.Tyr1578Cys
  • NP_001394855.1:p.Tyr1578Cys
  • NP_001394856.1:p.Tyr1577Cys
  • NP_001394857.1:p.Tyr1577Cys
  • NP_001394858.1:p.Tyr1577Cys
  • NP_001394859.1:p.Tyr1577Cys
  • NP_001394860.1:p.Tyr1577Cys
  • NP_001394861.1:p.Tyr1577Cys
  • NP_001394862.1:p.Tyr1577Cys
  • NP_001394863.1:p.Tyr1576Cys
  • NP_001394864.1:p.Tyr1576Cys
  • NP_001394865.1:p.Tyr1576Cys
  • NP_001394866.1:p.Tyr1625Cys
  • NP_001394867.1:p.Tyr1625Cys
  • NP_001394868.1:p.Tyr1624Cys
  • NP_001394869.1:p.Tyr1624Cys
  • NP_001394870.1:p.Tyr1623Cys
  • NP_001394871.1:p.Tyr1619Cys
  • NP_001394872.1:p.Tyr1618Cys
  • NP_001394873.1:p.Tyr1618Cys
  • NP_001394874.1:p.Tyr1618Cys
  • NP_001394875.1:p.Tyr1555Cys
  • NP_001394876.1:p.Tyr1555Cys
  • NP_001394877.1:p.Tyr1555Cys
  • NP_001394878.1:p.Tyr1555Cys
  • NP_001394879.1:p.Tyr1554Cys
  • NP_001394880.1:p.Tyr1554Cys
  • NP_001394881.1:p.Tyr1554Cys
  • NP_001394882.1:p.Tyr1554Cys
  • NP_001394883.1:p.Tyr1554Cys
  • NP_001394884.1:p.Tyr1554Cys
  • NP_001394885.1:p.Tyr1553Cys
  • NP_001394886.1:p.Tyr1553Cys
  • NP_001394887.1:p.Tyr1553Cys
  • NP_001394888.1:p.Tyr1539Cys
  • NP_001394889.1:p.Tyr1538Cys
  • NP_001394891.1:p.Tyr1538Cys
  • NP_001394892.1:p.Tyr1537Cys
  • NP_001394893.1:p.Tyr1512Cys
  • NP_001394894.1:p.Tyr1497Cys
  • NP_001394895.1:p.Tyr1370Cys
  • NP_001394896.1:p.Tyr1369Cys
  • NP_001394897.1:p.Tyr798Cys
  • NP_001394898.1:p.Tyr797Cys
  • NP_001394899.1:p.Tyr585Cys
  • NP_001394900.1:p.Tyr585Cys
  • NP_001394901.1:p.Tyr584Cys
  • NP_001394902.1:p.Tyr563Cys
  • NP_001394903.1:p.Tyr563Cys
  • NP_001394904.1:p.Tyr563Cys
  • NP_001394905.1:p.Tyr563Cys
  • NP_001394906.1:p.Tyr563Cys
  • NP_001394907.1:p.Tyr563Cys
  • NP_001394908.1:p.Tyr562Cys
  • NP_001394909.1:p.Tyr562Cys
  • NP_001394910.1:p.Tyr562Cys
  • NP_001394911.1:p.Tyr562Cys
  • NP_001394912.1:p.Tyr562Cys
  • NP_001394913.1:p.Tyr562Cys
  • NP_001394914.1:p.Tyr562Cys
  • NP_001394915.1:p.Tyr562Cys
  • NP_001394919.1:p.Tyr562Cys
  • NP_001394920.1:p.Tyr562Cys
  • NP_001394921.1:p.Tyr562Cys
  • NP_001394922.1:p.Tyr562Cys
  • NP_001395321.1:p.Tyr561Cys
  • NP_001395325.1:p.Tyr561Cys
  • NP_001395326.1:p.Tyr561Cys
  • NP_001395327.1:p.Tyr561Cys
  • NP_001395328.1:p.Tyr561Cys
  • NP_001395329.1:p.Tyr561Cys
  • NP_001395330.1:p.Tyr561Cys
  • NP_001395331.1:p.Tyr561Cys
  • NP_001395332.1:p.Tyr561Cys
  • NP_001395333.1:p.Tyr561Cys
  • NP_001395335.1:p.Tyr560Cys
  • NP_001395336.1:p.Tyr560Cys
  • NP_001395337.1:p.Tyr560Cys
  • NP_001395338.1:p.Tyr559Cys
  • NP_001395339.1:p.Tyr538Cys
  • NP_001395340.1:p.Tyr537Cys
  • NP_001395341.1:p.Tyr536Cys
  • NP_001395342.1:p.Tyr536Cys
  • NP_001395343.1:p.Tyr536Cys
  • NP_001395344.1:p.Tyr536Cys
  • NP_001395345.1:p.Tyr536Cys
  • NP_001395347.1:p.Tyr524Cys
  • NP_001395348.1:p.Tyr524Cys
  • NP_001395349.1:p.Tyr524Cys
  • NP_001395350.1:p.Tyr523Cys
  • NP_001395351.1:p.Tyr523Cys
  • NP_001395352.1:p.Tyr523Cys
  • NP_001395353.1:p.Tyr523Cys
  • NP_001395354.1:p.Tyr522Cys
  • NP_001395355.1:p.Tyr522Cys
  • NP_001395356.1:p.Tyr522Cys
  • NP_001395357.1:p.Tyr522Cys
  • NP_001395358.1:p.Tyr522Cys
  • NP_001395359.1:p.Tyr522Cys
  • NP_001395360.1:p.Tyr522Cys
  • NP_001395361.1:p.Tyr521Cys
  • NP_001395362.1:p.Tyr521Cys
  • NP_001395363.1:p.Tyr521Cys
  • NP_001395364.1:p.Tyr521Cys
  • NP_001395365.1:p.Tyr521Cys
  • NP_001395366.1:p.Tyr521Cys
  • NP_001395367.1:p.Tyr521Cys
  • NP_001395368.1:p.Tyr521Cys
  • NP_001395369.1:p.Tyr521Cys
  • NP_001395370.1:p.Tyr521Cys
  • NP_001395371.1:p.Tyr521Cys
  • NP_001395372.1:p.Tyr521Cys
  • NP_001395373.1:p.Tyr521Cys
  • NP_001395374.1:p.Tyr520Cys
  • NP_001395375.1:p.Tyr520Cys
  • NP_001395376.1:p.Tyr520Cys
  • NP_001395377.1:p.Tyr520Cys
  • NP_001395379.1:p.Tyr520Cys
  • NP_001395380.1:p.Tyr518Cys
  • NP_001395381.1:p.Tyr516Cys
  • NP_001395382.1:p.Tyr516Cys
  • NP_001395383.1:p.Tyr516Cys
  • NP_001395384.1:p.Tyr516Cys
  • NP_001395385.1:p.Tyr516Cys
  • NP_001395386.1:p.Tyr516Cys
  • NP_001395387.1:p.Tyr515Cys
  • NP_001395388.1:p.Tyr515Cys
  • NP_001395389.1:p.Tyr515Cys
  • NP_001395390.1:p.Tyr515Cys
  • NP_001395391.1:p.Tyr515Cys
  • NP_001395392.1:p.Tyr515Cys
  • NP_001395393.1:p.Tyr515Cys
  • NP_001395394.1:p.Tyr515Cys
  • NP_001395395.1:p.Tyr515Cys
  • NP_001395396.1:p.Tyr515Cys
  • NP_001395397.1:p.Tyr514Cys
  • NP_001395398.1:p.Tyr514Cys
  • NP_001395399.1:p.Tyr514Cys
  • NP_001395401.1:p.Tyr562Cys
  • NP_001395402.1:p.Tyr561Cys
  • NP_001395403.1:p.Tyr496Cys
  • NP_001395404.1:p.Tyr495Cys
  • NP_001395405.1:p.Tyr495Cys
  • NP_001395407.1:p.Tyr493Cys
  • NP_001395408.1:p.Tyr493Cys
  • NP_001395409.1:p.Tyr493Cys
  • NP_001395410.1:p.Tyr492Cys
  • NP_001395411.1:p.Tyr492Cys
  • NP_001395412.1:p.Tyr492Cys
  • NP_001395413.1:p.Tyr492Cys
  • NP_001395414.1:p.Tyr492Cys
  • NP_001395418.1:p.Tyr492Cys
  • NP_001395419.1:p.Tyr492Cys
  • NP_001395420.1:p.Tyr492Cys
  • NP_001395421.1:p.Tyr491Cys
  • NP_001395422.1:p.Tyr491Cys
  • NP_001395423.1:p.Tyr483Cys
  • NP_001395424.1:p.Tyr481Cys
  • NP_001395425.1:p.Tyr475Cys
  • NP_001395426.1:p.Tyr475Cys
  • NP_001395427.1:p.Tyr475Cys
  • NP_001395428.1:p.Tyr475Cys
  • NP_001395429.1:p.Tyr475Cys
  • NP_001395430.1:p.Tyr475Cys
  • NP_001395431.1:p.Tyr474Cys
  • NP_001395432.1:p.Tyr474Cys
  • NP_001395433.1:p.Tyr474Cys
  • NP_001395434.1:p.Tyr473Cys
  • NP_001395435.1:p.Tyr454Cys
  • NP_001395436.1:p.Tyr453Cys
  • NP_001395437.1:p.Tyr450Cys
  • NP_001395438.1:p.Tyr449Cys
  • NP_001395439.1:p.Tyr436Cys
  • NP_001395440.1:p.Tyr435Cys
  • NP_001395441.1:p.Tyr395Cys
  • NP_001395442.1:p.Tyr386Cys
  • NP_009225.1:p.Tyr1666Cys
  • NP_009225.1:p.Tyr1666Cys
  • NP_009228.2:p.Tyr1619Cys
  • NP_009229.2:p.Tyr562Cys
  • NP_009229.2:p.Tyr562Cys
  • NP_009230.2:p.Tyr562Cys
  • NP_009231.2:p.Tyr1687Cys
  • NP_009235.2:p.Tyr562Cys
  • LRG_292t1:c.4997A>G
  • LRG_292:g.150299A>G
  • LRG_292p1:p.Tyr1666Cys
  • NC_000017.10:g.41219702T>C
  • NM_007294.3:c.4997A>G
  • NM_007298.3:c.1685A>G
  • NR_027676.2:n.5174A>G
Protein change:
Y1369C
Links:
dbSNP: rs397509216
NCBI 1000 Genomes Browser:
rs397509216
Molecular consequence:
  • NM_001407571.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5063A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5063A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5060A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5060A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5060A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4982A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4937A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4871A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4658A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4658A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4658A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4616A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4490A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2393A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2390A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1754A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1754A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1553A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1487A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1358A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1157A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5060A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5174A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - 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
SCV001544653Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 6, 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

Mutation screening of the BRCA1 gene in sporadic breast cancer in southern Chinese populations.

Haitian Z, Yunfei L, Jian Z, Jian L, Qinghua L, Fuqiang W.

Breast. 2008 Dec;17(6):563-7. doi: 10.1016/j.breast.2008.08.003. Epub 2008 Oct 5.

PubMed [citation]
PMID:
18835712

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C, Sadowski CE, Kohlstedt D, Keller K, Stäritz F, Grübling N, Becker K, Mackenroth L, Rump A, Schröck E, Arnold N, Wimberger P, Kast K.

Arch Gynecol Obstet. 2017 May;295(5):1227-1238. doi: 10.1007/s00404-017-4330-z. Epub 2017 Mar 21.

PubMed [citation]
PMID:
28324225
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001544653.4

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

Description

This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1666 of the BRCA1 protein (p.Tyr1666Cys). This variant is present in population databases (rs397509216, gnomAD 0.009%). This missense change has been observed in individual(s) with breast cancer and family history of hereditary breast or ovarian cancer (PMID: 18835712, 28324225). This variant is also known as c.5116A>G. ClinVar contains an entry for this variant (Variation ID: 55352). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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