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NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Oct 28, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000129407.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)]

NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)

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.4625C>G (p.Ser1542Cys)
HGVS:
  • NC_000017.11:g.43074381G>C
  • NG_005905.2:g.143603C>G
  • NM_001407571.1:c.4412C>G
  • NM_001407581.1:c.4691C>G
  • NM_001407582.1:c.4691C>G
  • NM_001407583.1:c.4688C>G
  • NM_001407585.1:c.4688C>G
  • NM_001407587.1:c.4688C>G
  • NM_001407590.1:c.4685C>G
  • NM_001407591.1:c.4685C>G
  • NM_001407593.1:c.4625C>G
  • NM_001407594.1:c.4625C>G
  • NM_001407596.1:c.4625C>G
  • NM_001407597.1:c.4625C>G
  • NM_001407598.1:c.4625C>G
  • NM_001407602.1:c.4625C>G
  • NM_001407603.1:c.4625C>G
  • NM_001407605.1:c.4625C>G
  • NM_001407610.1:c.4622C>G
  • NM_001407611.1:c.4622C>G
  • NM_001407612.1:c.4622C>G
  • NM_001407613.1:c.4622C>G
  • NM_001407614.1:c.4622C>G
  • NM_001407615.1:c.4622C>G
  • NM_001407616.1:c.4622C>G
  • NM_001407617.1:c.4622C>G
  • NM_001407618.1:c.4622C>G
  • NM_001407619.1:c.4622C>G
  • NM_001407620.1:c.4622C>G
  • NM_001407621.1:c.4622C>G
  • NM_001407622.1:c.4622C>G
  • NM_001407623.1:c.4622C>G
  • NM_001407624.1:c.4622C>G
  • NM_001407625.1:c.4622C>G
  • NM_001407626.1:c.4622C>G
  • NM_001407627.1:c.4619C>G
  • NM_001407628.1:c.4619C>G
  • NM_001407629.1:c.4619C>G
  • NM_001407630.1:c.4619C>G
  • NM_001407631.1:c.4619C>G
  • NM_001407632.1:c.4619C>G
  • NM_001407633.1:c.4619C>G
  • NM_001407634.1:c.4619C>G
  • NM_001407635.1:c.4619C>G
  • NM_001407636.1:c.4619C>G
  • NM_001407637.1:c.4619C>G
  • NM_001407638.1:c.4619C>G
  • NM_001407639.1:c.4619C>G
  • NM_001407640.1:c.4619C>G
  • NM_001407641.1:c.4619C>G
  • NM_001407642.1:c.4619C>G
  • NM_001407644.1:c.4616C>G
  • NM_001407645.1:c.4616C>G
  • NM_001407646.1:c.4613C>G
  • NM_001407647.1:c.4610C>G
  • NM_001407648.1:c.4568C>G
  • NM_001407649.1:c.4565C>G
  • NM_001407652.1:c.4625C>G
  • NM_001407653.1:c.4547C>G
  • NM_001407654.1:c.4547C>G
  • NM_001407655.1:c.4547C>G
  • NM_001407656.1:c.4544C>G
  • NM_001407657.1:c.4544C>G
  • NM_001407658.1:c.4544C>G
  • NM_001407659.1:c.4541C>G
  • NM_001407660.1:c.4541C>G
  • NM_001407661.1:c.4541C>G
  • NM_001407662.1:c.4541C>G
  • NM_001407663.1:c.4541C>G
  • NM_001407664.1:c.4502C>G
  • NM_001407665.1:c.4502C>G
  • NM_001407666.1:c.4502C>G
  • NM_001407667.1:c.4502C>G
  • NM_001407668.1:c.4502C>G
  • NM_001407669.1:c.4502C>G
  • NM_001407670.1:c.4499C>G
  • NM_001407671.1:c.4499C>G
  • NM_001407672.1:c.4499C>G
  • NM_001407673.1:c.4499C>G
  • NM_001407674.1:c.4499C>G
  • NM_001407675.1:c.4499C>G
  • NM_001407676.1:c.4499C>G
  • NM_001407677.1:c.4499C>G
  • NM_001407678.1:c.4499C>G
  • NM_001407679.1:c.4499C>G
  • NM_001407680.1:c.4499C>G
  • NM_001407681.1:c.4496C>G
  • NM_001407682.1:c.4496C>G
  • NM_001407683.1:c.4496C>G
  • NM_001407684.1:c.4625C>G
  • NM_001407685.1:c.4496C>G
  • NM_001407686.1:c.4496C>G
  • NM_001407687.1:c.4496C>G
  • NM_001407688.1:c.4496C>G
  • NM_001407689.1:c.4496C>G
  • NM_001407690.1:c.4493C>G
  • NM_001407691.1:c.4493C>G
  • NM_001407692.1:c.4484C>G
  • NM_001407694.1:c.4484C>G
  • NM_001407695.1:c.4484C>G
  • NM_001407696.1:c.4484C>G
  • NM_001407697.1:c.4484C>G
  • NM_001407698.1:c.4484C>G
  • NM_001407724.1:c.4484C>G
  • NM_001407725.1:c.4484C>G
  • NM_001407726.1:c.4484C>G
  • NM_001407727.1:c.4484C>G
  • NM_001407728.1:c.4484C>G
  • NM_001407729.1:c.4484C>G
  • NM_001407730.1:c.4484C>G
  • NM_001407731.1:c.4484C>G
  • NM_001407732.1:c.4481C>G
  • NM_001407733.1:c.4481C>G
  • NM_001407734.1:c.4481C>G
  • NM_001407735.1:c.4481C>G
  • NM_001407736.1:c.4481C>G
  • NM_001407737.1:c.4481C>G
  • NM_001407738.1:c.4481C>G
  • NM_001407739.1:c.4481C>G
  • NM_001407740.1:c.4481C>G
  • NM_001407741.1:c.4481C>G
  • NM_001407742.1:c.4481C>G
  • NM_001407743.1:c.4481C>G
  • NM_001407744.1:c.4481C>G
  • NM_001407745.1:c.4481C>G
  • NM_001407746.1:c.4481C>G
  • NM_001407747.1:c.4481C>G
  • NM_001407748.1:c.4481C>G
  • NM_001407749.1:c.4481C>G
  • NM_001407750.1:c.4481C>G
  • NM_001407751.1:c.4481C>G
  • NM_001407752.1:c.4481C>G
  • NM_001407838.1:c.4478C>G
  • NM_001407839.1:c.4478C>G
  • NM_001407841.1:c.4478C>G
  • NM_001407842.1:c.4478C>G
  • NM_001407843.1:c.4478C>G
  • NM_001407844.1:c.4478C>G
  • NM_001407845.1:c.4478C>G
  • NM_001407846.1:c.4478C>G
  • NM_001407847.1:c.4478C>G
  • NM_001407848.1:c.4478C>G
  • NM_001407849.1:c.4478C>G
  • NM_001407850.1:c.4478C>G
  • NM_001407851.1:c.4478C>G
  • NM_001407852.1:c.4478C>G
  • NM_001407853.1:c.4478C>G
  • NM_001407854.1:c.4625C>G
  • NM_001407858.1:c.4622C>G
  • NM_001407859.1:c.4622C>G
  • NM_001407860.1:c.4622C>G
  • NM_001407861.1:c.4619C>G
  • NM_001407862.1:c.4424C>G
  • NM_001407863.1:c.4499C>G
  • NM_001407874.1:c.4418C>G
  • NM_001407875.1:c.4418C>G
  • NM_001407879.1:c.4415C>G
  • NM_001407881.1:c.4415C>G
  • NM_001407882.1:c.4415C>G
  • NM_001407884.1:c.4415C>G
  • NM_001407885.1:c.4415C>G
  • NM_001407886.1:c.4415C>G
  • NM_001407887.1:c.4415C>G
  • NM_001407889.1:c.4415C>G
  • NM_001407894.1:c.4412C>G
  • NM_001407895.1:c.4412C>G
  • NM_001407896.1:c.4412C>G
  • NM_001407897.1:c.4412C>G
  • NM_001407898.1:c.4412C>G
  • NM_001407899.1:c.4412C>G
  • NM_001407900.1:c.4412C>G
  • NM_001407902.1:c.4412C>G
  • NM_001407904.1:c.4412C>G
  • NM_001407906.1:c.4412C>G
  • NM_001407907.1:c.4412C>G
  • NM_001407908.1:c.4412C>G
  • NM_001407909.1:c.4412C>G
  • NM_001407910.1:c.4412C>G
  • NM_001407915.1:c.4409C>G
  • NM_001407916.1:c.4409C>G
  • NM_001407917.1:c.4409C>G
  • NM_001407918.1:c.4409C>G
  • NM_001407919.1:c.4502C>G
  • NM_001407920.1:c.4361C>G
  • NM_001407921.1:c.4361C>G
  • NM_001407922.1:c.4361C>G
  • NM_001407923.1:c.4361C>G
  • NM_001407924.1:c.4361C>G
  • NM_001407925.1:c.4361C>G
  • NM_001407926.1:c.4361C>G
  • NM_001407927.1:c.4358C>G
  • NM_001407928.1:c.4358C>G
  • NM_001407929.1:c.4358C>G
  • NM_001407930.1:c.4358C>G
  • NM_001407931.1:c.4358C>G
  • NM_001407932.1:c.4358C>G
  • NM_001407933.1:c.4358C>G
  • NM_001407934.1:c.4355C>G
  • NM_001407935.1:c.4355C>G
  • NM_001407936.1:c.4355C>G
  • NM_001407937.1:c.4502C>G
  • NM_001407938.1:c.4502C>G
  • NM_001407939.1:c.4499C>G
  • NM_001407940.1:c.4499C>G
  • NM_001407941.1:c.4496C>G
  • NM_001407942.1:c.4484C>G
  • NM_001407943.1:c.4481C>G
  • NM_001407944.1:c.4481C>G
  • NM_001407945.1:c.4481C>G
  • NM_001407946.1:c.4292C>G
  • NM_001407947.1:c.4292C>G
  • NM_001407948.1:c.4292C>G
  • NM_001407949.1:c.4292C>G
  • NM_001407950.1:c.4289C>G
  • NM_001407951.1:c.4289C>G
  • NM_001407952.1:c.4289C>G
  • NM_001407953.1:c.4289C>G
  • NM_001407954.1:c.4289C>G
  • NM_001407955.1:c.4289C>G
  • NM_001407956.1:c.4286C>G
  • NM_001407957.1:c.4286C>G
  • NM_001407958.1:c.4286C>G
  • NM_001407959.1:c.4244C>G
  • NM_001407960.1:c.4241C>G
  • NM_001407962.1:c.4241C>G
  • NM_001407963.1:c.4238C>G
  • NM_001407965.1:c.4118C>G
  • NM_001407966.1:c.3737C>G
  • NM_001407967.1:c.3734C>G
  • NM_001407968.1:c.2021C>G
  • NM_001407969.1:c.2018C>G
  • NM_001407970.1:c.1382C>G
  • NM_001407971.1:c.1382C>G
  • NM_001407972.1:c.1379C>G
  • NM_001407973.1:c.1316C>G
  • NM_001407974.1:c.1316C>G
  • NM_001407975.1:c.1316C>G
  • NM_001407976.1:c.1316C>G
  • NM_001407977.1:c.1316C>G
  • NM_001407978.1:c.1316C>G
  • NM_001407979.1:c.1313C>G
  • NM_001407980.1:c.1313C>G
  • NM_001407981.1:c.1313C>G
  • NM_001407982.1:c.1313C>G
  • NM_001407983.1:c.1313C>G
  • NM_001407984.1:c.1313C>G
  • NM_001407985.1:c.1313C>G
  • NM_001407986.1:c.1313C>G
  • NM_001407990.1:c.1313C>G
  • NM_001407991.1:c.1313C>G
  • NM_001407992.1:c.1313C>G
  • NM_001407993.1:c.1313C>G
  • NM_001408392.1:c.1310C>G
  • NM_001408396.1:c.1310C>G
  • NM_001408397.1:c.1310C>G
  • NM_001408398.1:c.1310C>G
  • NM_001408399.1:c.1310C>G
  • NM_001408400.1:c.1310C>G
  • NM_001408401.1:c.1310C>G
  • NM_001408402.1:c.1310C>G
  • NM_001408403.1:c.1310C>G
  • NM_001408404.1:c.1310C>G
  • NM_001408406.1:c.1307C>G
  • NM_001408407.1:c.1307C>G
  • NM_001408408.1:c.1307C>G
  • NM_001408409.1:c.1304C>G
  • NM_001408410.1:c.1241C>G
  • NM_001408411.1:c.1238C>G
  • NM_001408412.1:c.1235C>G
  • NM_001408413.1:c.1235C>G
  • NM_001408414.1:c.1235C>G
  • NM_001408415.1:c.1235C>G
  • NM_001408416.1:c.1235C>G
  • NM_001408418.1:c.1199C>G
  • NM_001408419.1:c.1199C>G
  • NM_001408420.1:c.1199C>G
  • NM_001408421.1:c.1196C>G
  • NM_001408422.1:c.1196C>G
  • NM_001408423.1:c.1196C>G
  • NM_001408424.1:c.1196C>G
  • NM_001408425.1:c.1193C>G
  • NM_001408426.1:c.1193C>G
  • NM_001408427.1:c.1193C>G
  • NM_001408428.1:c.1193C>G
  • NM_001408429.1:c.1193C>G
  • NM_001408430.1:c.1193C>G
  • NM_001408431.1:c.1193C>G
  • NM_001408432.1:c.1190C>G
  • NM_001408433.1:c.1190C>G
  • NM_001408434.1:c.1190C>G
  • NM_001408435.1:c.1190C>G
  • NM_001408436.1:c.1190C>G
  • NM_001408437.1:c.1190C>G
  • NM_001408438.1:c.1190C>G
  • NM_001408439.1:c.1190C>G
  • NM_001408440.1:c.1190C>G
  • NM_001408441.1:c.1190C>G
  • NM_001408442.1:c.1190C>G
  • NM_001408443.1:c.1190C>G
  • NM_001408444.1:c.1190C>G
  • NM_001408445.1:c.1187C>G
  • NM_001408446.1:c.1187C>G
  • NM_001408447.1:c.1187C>G
  • NM_001408448.1:c.1187C>G
  • NM_001408450.1:c.1187C>G
  • NM_001408451.1:c.1181C>G
  • NM_001408452.1:c.1175C>G
  • NM_001408453.1:c.1175C>G
  • NM_001408454.1:c.1175C>G
  • NM_001408455.1:c.1175C>G
  • NM_001408456.1:c.1175C>G
  • NM_001408457.1:c.1175C>G
  • NM_001408458.1:c.1172C>G
  • NM_001408459.1:c.1172C>G
  • NM_001408460.1:c.1172C>G
  • NM_001408461.1:c.1172C>G
  • NM_001408462.1:c.1172C>G
  • NM_001408463.1:c.1172C>G
  • NM_001408464.1:c.1172C>G
  • NM_001408465.1:c.1172C>G
  • NM_001408466.1:c.1172C>G
  • NM_001408467.1:c.1172C>G
  • NM_001408468.1:c.1169C>G
  • NM_001408469.1:c.1169C>G
  • NM_001408470.1:c.1169C>G
  • NM_001408472.1:c.1313C>G
  • NM_001408473.1:c.1310C>G
  • NM_001408474.1:c.1115C>G
  • NM_001408475.1:c.1112C>G
  • NM_001408476.1:c.1112C>G
  • NM_001408478.1:c.1106C>G
  • NM_001408479.1:c.1106C>G
  • NM_001408480.1:c.1106C>G
  • NM_001408481.1:c.1103C>G
  • NM_001408482.1:c.1103C>G
  • NM_001408483.1:c.1103C>G
  • NM_001408484.1:c.1103C>G
  • NM_001408485.1:c.1103C>G
  • NM_001408489.1:c.1103C>G
  • NM_001408490.1:c.1103C>G
  • NM_001408491.1:c.1103C>G
  • NM_001408492.1:c.1100C>G
  • NM_001408493.1:c.1100C>G
  • NM_001408494.1:c.1076C>G
  • NM_001408495.1:c.1070C>G
  • NM_001408496.1:c.1052C>G
  • NM_001408497.1:c.1052C>G
  • NM_001408498.1:c.1052C>G
  • NM_001408499.1:c.1052C>G
  • NM_001408500.1:c.1052C>G
  • NM_001408501.1:c.1052C>G
  • NM_001408502.1:c.1049C>G
  • NM_001408503.1:c.1049C>G
  • NM_001408504.1:c.1049C>G
  • NM_001408505.1:c.1046C>G
  • NM_001408506.1:c.989C>G
  • NM_001408507.1:c.986C>G
  • NM_001408508.1:c.977C>G
  • NM_001408509.1:c.974C>G
  • NM_001408510.1:c.935C>G
  • NM_001408511.1:c.932C>G
  • NM_001408512.1:c.812C>G
  • NM_007294.4:c.4625C>GMANE SELECT
  • NM_007297.4:c.4484C>G
  • NM_007298.4:c.1313C>G
  • NM_007299.4:c.1313C>G
  • NM_007300.4:c.4688C>G
  • NM_007304.2:c.1313C>G
  • NP_001394500.1:p.Ser1471Cys
  • NP_001394510.1:p.Ser1564Cys
  • NP_001394511.1:p.Ser1564Cys
  • NP_001394512.1:p.Ser1563Cys
  • NP_001394514.1:p.Ser1563Cys
  • NP_001394516.1:p.Ser1563Cys
  • NP_001394519.1:p.Ser1562Cys
  • NP_001394520.1:p.Ser1562Cys
  • NP_001394522.1:p.Ser1542Cys
  • NP_001394523.1:p.Ser1542Cys
  • NP_001394525.1:p.Ser1542Cys
  • NP_001394526.1:p.Ser1542Cys
  • NP_001394527.1:p.Ser1542Cys
  • NP_001394531.1:p.Ser1542Cys
  • NP_001394532.1:p.Ser1542Cys
  • NP_001394534.1:p.Ser1542Cys
  • NP_001394539.1:p.Ser1541Cys
  • NP_001394540.1:p.Ser1541Cys
  • NP_001394541.1:p.Ser1541Cys
  • NP_001394542.1:p.Ser1541Cys
  • NP_001394543.1:p.Ser1541Cys
  • NP_001394544.1:p.Ser1541Cys
  • NP_001394545.1:p.Ser1541Cys
  • NP_001394546.1:p.Ser1541Cys
  • NP_001394547.1:p.Ser1541Cys
  • NP_001394548.1:p.Ser1541Cys
  • NP_001394549.1:p.Ser1541Cys
  • NP_001394550.1:p.Ser1541Cys
  • NP_001394551.1:p.Ser1541Cys
  • NP_001394552.1:p.Ser1541Cys
  • NP_001394553.1:p.Ser1541Cys
  • NP_001394554.1:p.Ser1541Cys
  • NP_001394555.1:p.Ser1541Cys
  • NP_001394556.1:p.Ser1540Cys
  • NP_001394557.1:p.Ser1540Cys
  • NP_001394558.1:p.Ser1540Cys
  • NP_001394559.1:p.Ser1540Cys
  • NP_001394560.1:p.Ser1540Cys
  • NP_001394561.1:p.Ser1540Cys
  • NP_001394562.1:p.Ser1540Cys
  • NP_001394563.1:p.Ser1540Cys
  • NP_001394564.1:p.Ser1540Cys
  • NP_001394565.1:p.Ser1540Cys
  • NP_001394566.1:p.Ser1540Cys
  • NP_001394567.1:p.Ser1540Cys
  • NP_001394568.1:p.Ser1540Cys
  • NP_001394569.1:p.Ser1540Cys
  • NP_001394570.1:p.Ser1540Cys
  • NP_001394571.1:p.Ser1540Cys
  • NP_001394573.1:p.Ser1539Cys
  • NP_001394574.1:p.Ser1539Cys
  • NP_001394575.1:p.Ser1538Cys
  • NP_001394576.1:p.Ser1537Cys
  • NP_001394577.1:p.Ser1523Cys
  • NP_001394578.1:p.Ser1522Cys
  • NP_001394581.1:p.Ser1542Cys
  • NP_001394582.1:p.Ser1516Cys
  • NP_001394583.1:p.Ser1516Cys
  • NP_001394584.1:p.Ser1516Cys
  • NP_001394585.1:p.Ser1515Cys
  • NP_001394586.1:p.Ser1515Cys
  • NP_001394587.1:p.Ser1515Cys
  • NP_001394588.1:p.Ser1514Cys
  • NP_001394589.1:p.Ser1514Cys
  • NP_001394590.1:p.Ser1514Cys
  • NP_001394591.1:p.Ser1514Cys
  • NP_001394592.1:p.Ser1514Cys
  • NP_001394593.1:p.Ser1501Cys
  • NP_001394594.1:p.Ser1501Cys
  • NP_001394595.1:p.Ser1501Cys
  • NP_001394596.1:p.Ser1501Cys
  • NP_001394597.1:p.Ser1501Cys
  • NP_001394598.1:p.Ser1501Cys
  • NP_001394599.1:p.Ser1500Cys
  • NP_001394600.1:p.Ser1500Cys
  • NP_001394601.1:p.Ser1500Cys
  • NP_001394602.1:p.Ser1500Cys
  • NP_001394603.1:p.Ser1500Cys
  • NP_001394604.1:p.Ser1500Cys
  • NP_001394605.1:p.Ser1500Cys
  • NP_001394606.1:p.Ser1500Cys
  • NP_001394607.1:p.Ser1500Cys
  • NP_001394608.1:p.Ser1500Cys
  • NP_001394609.1:p.Ser1500Cys
  • NP_001394610.1:p.Ser1499Cys
  • NP_001394611.1:p.Ser1499Cys
  • NP_001394612.1:p.Ser1499Cys
  • NP_001394613.1:p.Ser1542Cys
  • NP_001394614.1:p.Ser1499Cys
  • NP_001394615.1:p.Ser1499Cys
  • NP_001394616.1:p.Ser1499Cys
  • NP_001394617.1:p.Ser1499Cys
  • NP_001394618.1:p.Ser1499Cys
  • NP_001394619.1:p.Ser1498Cys
  • NP_001394620.1:p.Ser1498Cys
  • NP_001394621.1:p.Ser1495Cys
  • NP_001394623.1:p.Ser1495Cys
  • NP_001394624.1:p.Ser1495Cys
  • NP_001394625.1:p.Ser1495Cys
  • NP_001394626.1:p.Ser1495Cys
  • NP_001394627.1:p.Ser1495Cys
  • NP_001394653.1:p.Ser1495Cys
  • NP_001394654.1:p.Ser1495Cys
  • NP_001394655.1:p.Ser1495Cys
  • NP_001394656.1:p.Ser1495Cys
  • NP_001394657.1:p.Ser1495Cys
  • NP_001394658.1:p.Ser1495Cys
  • NP_001394659.1:p.Ser1495Cys
  • NP_001394660.1:p.Ser1495Cys
  • NP_001394661.1:p.Ser1494Cys
  • NP_001394662.1:p.Ser1494Cys
  • NP_001394663.1:p.Ser1494Cys
  • NP_001394664.1:p.Ser1494Cys
  • NP_001394665.1:p.Ser1494Cys
  • NP_001394666.1:p.Ser1494Cys
  • NP_001394667.1:p.Ser1494Cys
  • NP_001394668.1:p.Ser1494Cys
  • NP_001394669.1:p.Ser1494Cys
  • NP_001394670.1:p.Ser1494Cys
  • NP_001394671.1:p.Ser1494Cys
  • NP_001394672.1:p.Ser1494Cys
  • NP_001394673.1:p.Ser1494Cys
  • NP_001394674.1:p.Ser1494Cys
  • NP_001394675.1:p.Ser1494Cys
  • NP_001394676.1:p.Ser1494Cys
  • NP_001394677.1:p.Ser1494Cys
  • NP_001394678.1:p.Ser1494Cys
  • NP_001394679.1:p.Ser1494Cys
  • NP_001394680.1:p.Ser1494Cys
  • NP_001394681.1:p.Ser1494Cys
  • NP_001394767.1:p.Ser1493Cys
  • NP_001394768.1:p.Ser1493Cys
  • NP_001394770.1:p.Ser1493Cys
  • NP_001394771.1:p.Ser1493Cys
  • NP_001394772.1:p.Ser1493Cys
  • NP_001394773.1:p.Ser1493Cys
  • NP_001394774.1:p.Ser1493Cys
  • NP_001394775.1:p.Ser1493Cys
  • NP_001394776.1:p.Ser1493Cys
  • NP_001394777.1:p.Ser1493Cys
  • NP_001394778.1:p.Ser1493Cys
  • NP_001394779.1:p.Ser1493Cys
  • NP_001394780.1:p.Ser1493Cys
  • NP_001394781.1:p.Ser1493Cys
  • NP_001394782.1:p.Ser1493Cys
  • NP_001394783.1:p.Ser1542Cys
  • NP_001394787.1:p.Ser1541Cys
  • NP_001394788.1:p.Ser1541Cys
  • NP_001394789.1:p.Ser1541Cys
  • NP_001394790.1:p.Ser1540Cys
  • NP_001394791.1:p.Ser1475Cys
  • NP_001394792.1:p.Ser1500Cys
  • NP_001394803.1:p.Ser1473Cys
  • NP_001394804.1:p.Ser1473Cys
  • NP_001394808.1:p.Ser1472Cys
  • NP_001394810.1:p.Ser1472Cys
  • NP_001394811.1:p.Ser1472Cys
  • NP_001394813.1:p.Ser1472Cys
  • NP_001394814.1:p.Ser1472Cys
  • NP_001394815.1:p.Ser1472Cys
  • NP_001394816.1:p.Ser1472Cys
  • NP_001394818.1:p.Ser1472Cys
  • NP_001394823.1:p.Ser1471Cys
  • NP_001394824.1:p.Ser1471Cys
  • NP_001394825.1:p.Ser1471Cys
  • NP_001394826.1:p.Ser1471Cys
  • NP_001394827.1:p.Ser1471Cys
  • NP_001394828.1:p.Ser1471Cys
  • NP_001394829.1:p.Ser1471Cys
  • NP_001394831.1:p.Ser1471Cys
  • NP_001394833.1:p.Ser1471Cys
  • NP_001394835.1:p.Ser1471Cys
  • NP_001394836.1:p.Ser1471Cys
  • NP_001394837.1:p.Ser1471Cys
  • NP_001394838.1:p.Ser1471Cys
  • NP_001394839.1:p.Ser1471Cys
  • NP_001394844.1:p.Ser1470Cys
  • NP_001394845.1:p.Ser1470Cys
  • NP_001394846.1:p.Ser1470Cys
  • NP_001394847.1:p.Ser1470Cys
  • NP_001394848.1:p.Ser1501Cys
  • NP_001394849.1:p.Ser1454Cys
  • NP_001394850.1:p.Ser1454Cys
  • NP_001394851.1:p.Ser1454Cys
  • NP_001394852.1:p.Ser1454Cys
  • NP_001394853.1:p.Ser1454Cys
  • NP_001394854.1:p.Ser1454Cys
  • NP_001394855.1:p.Ser1454Cys
  • NP_001394856.1:p.Ser1453Cys
  • NP_001394857.1:p.Ser1453Cys
  • NP_001394858.1:p.Ser1453Cys
  • NP_001394859.1:p.Ser1453Cys
  • NP_001394860.1:p.Ser1453Cys
  • NP_001394861.1:p.Ser1453Cys
  • NP_001394862.1:p.Ser1453Cys
  • NP_001394863.1:p.Ser1452Cys
  • NP_001394864.1:p.Ser1452Cys
  • NP_001394865.1:p.Ser1452Cys
  • NP_001394866.1:p.Ser1501Cys
  • NP_001394867.1:p.Ser1501Cys
  • NP_001394868.1:p.Ser1500Cys
  • NP_001394869.1:p.Ser1500Cys
  • NP_001394870.1:p.Ser1499Cys
  • NP_001394871.1:p.Ser1495Cys
  • NP_001394872.1:p.Ser1494Cys
  • NP_001394873.1:p.Ser1494Cys
  • NP_001394874.1:p.Ser1494Cys
  • NP_001394875.1:p.Ser1431Cys
  • NP_001394876.1:p.Ser1431Cys
  • NP_001394877.1:p.Ser1431Cys
  • NP_001394878.1:p.Ser1431Cys
  • NP_001394879.1:p.Ser1430Cys
  • NP_001394880.1:p.Ser1430Cys
  • NP_001394881.1:p.Ser1430Cys
  • NP_001394882.1:p.Ser1430Cys
  • NP_001394883.1:p.Ser1430Cys
  • NP_001394884.1:p.Ser1430Cys
  • NP_001394885.1:p.Ser1429Cys
  • NP_001394886.1:p.Ser1429Cys
  • NP_001394887.1:p.Ser1429Cys
  • NP_001394888.1:p.Ser1415Cys
  • NP_001394889.1:p.Ser1414Cys
  • NP_001394891.1:p.Ser1414Cys
  • NP_001394892.1:p.Ser1413Cys
  • NP_001394894.1:p.Ser1373Cys
  • NP_001394895.1:p.Ser1246Cys
  • NP_001394896.1:p.Ser1245Cys
  • NP_001394897.1:p.Ser674Cys
  • NP_001394898.1:p.Ser673Cys
  • NP_001394899.1:p.Ser461Cys
  • NP_001394900.1:p.Ser461Cys
  • NP_001394901.1:p.Ser460Cys
  • NP_001394902.1:p.Ser439Cys
  • NP_001394903.1:p.Ser439Cys
  • NP_001394904.1:p.Ser439Cys
  • NP_001394905.1:p.Ser439Cys
  • NP_001394906.1:p.Ser439Cys
  • NP_001394907.1:p.Ser439Cys
  • NP_001394908.1:p.Ser438Cys
  • NP_001394909.1:p.Ser438Cys
  • NP_001394910.1:p.Ser438Cys
  • NP_001394911.1:p.Ser438Cys
  • NP_001394912.1:p.Ser438Cys
  • NP_001394913.1:p.Ser438Cys
  • NP_001394914.1:p.Ser438Cys
  • NP_001394915.1:p.Ser438Cys
  • NP_001394919.1:p.Ser438Cys
  • NP_001394920.1:p.Ser438Cys
  • NP_001394921.1:p.Ser438Cys
  • NP_001394922.1:p.Ser438Cys
  • NP_001395321.1:p.Ser437Cys
  • NP_001395325.1:p.Ser437Cys
  • NP_001395326.1:p.Ser437Cys
  • NP_001395327.1:p.Ser437Cys
  • NP_001395328.1:p.Ser437Cys
  • NP_001395329.1:p.Ser437Cys
  • NP_001395330.1:p.Ser437Cys
  • NP_001395331.1:p.Ser437Cys
  • NP_001395332.1:p.Ser437Cys
  • NP_001395333.1:p.Ser437Cys
  • NP_001395335.1:p.Ser436Cys
  • NP_001395336.1:p.Ser436Cys
  • NP_001395337.1:p.Ser436Cys
  • NP_001395338.1:p.Ser435Cys
  • NP_001395339.1:p.Ser414Cys
  • NP_001395340.1:p.Ser413Cys
  • NP_001395341.1:p.Ser412Cys
  • NP_001395342.1:p.Ser412Cys
  • NP_001395343.1:p.Ser412Cys
  • NP_001395344.1:p.Ser412Cys
  • NP_001395345.1:p.Ser412Cys
  • NP_001395347.1:p.Ser400Cys
  • NP_001395348.1:p.Ser400Cys
  • NP_001395349.1:p.Ser400Cys
  • NP_001395350.1:p.Ser399Cys
  • NP_001395351.1:p.Ser399Cys
  • NP_001395352.1:p.Ser399Cys
  • NP_001395353.1:p.Ser399Cys
  • NP_001395354.1:p.Ser398Cys
  • NP_001395355.1:p.Ser398Cys
  • NP_001395356.1:p.Ser398Cys
  • NP_001395357.1:p.Ser398Cys
  • NP_001395358.1:p.Ser398Cys
  • NP_001395359.1:p.Ser398Cys
  • NP_001395360.1:p.Ser398Cys
  • NP_001395361.1:p.Ser397Cys
  • NP_001395362.1:p.Ser397Cys
  • NP_001395363.1:p.Ser397Cys
  • NP_001395364.1:p.Ser397Cys
  • NP_001395365.1:p.Ser397Cys
  • NP_001395366.1:p.Ser397Cys
  • NP_001395367.1:p.Ser397Cys
  • NP_001395368.1:p.Ser397Cys
  • NP_001395369.1:p.Ser397Cys
  • NP_001395370.1:p.Ser397Cys
  • NP_001395371.1:p.Ser397Cys
  • NP_001395372.1:p.Ser397Cys
  • NP_001395373.1:p.Ser397Cys
  • NP_001395374.1:p.Ser396Cys
  • NP_001395375.1:p.Ser396Cys
  • NP_001395376.1:p.Ser396Cys
  • NP_001395377.1:p.Ser396Cys
  • NP_001395379.1:p.Ser396Cys
  • NP_001395380.1:p.Ser394Cys
  • NP_001395381.1:p.Ser392Cys
  • NP_001395382.1:p.Ser392Cys
  • NP_001395383.1:p.Ser392Cys
  • NP_001395384.1:p.Ser392Cys
  • NP_001395385.1:p.Ser392Cys
  • NP_001395386.1:p.Ser392Cys
  • NP_001395387.1:p.Ser391Cys
  • NP_001395388.1:p.Ser391Cys
  • NP_001395389.1:p.Ser391Cys
  • NP_001395390.1:p.Ser391Cys
  • NP_001395391.1:p.Ser391Cys
  • NP_001395392.1:p.Ser391Cys
  • NP_001395393.1:p.Ser391Cys
  • NP_001395394.1:p.Ser391Cys
  • NP_001395395.1:p.Ser391Cys
  • NP_001395396.1:p.Ser391Cys
  • NP_001395397.1:p.Ser390Cys
  • NP_001395398.1:p.Ser390Cys
  • NP_001395399.1:p.Ser390Cys
  • NP_001395401.1:p.Ser438Cys
  • NP_001395402.1:p.Ser437Cys
  • NP_001395403.1:p.Ser372Cys
  • NP_001395404.1:p.Ser371Cys
  • NP_001395405.1:p.Ser371Cys
  • NP_001395407.1:p.Ser369Cys
  • NP_001395408.1:p.Ser369Cys
  • NP_001395409.1:p.Ser369Cys
  • NP_001395410.1:p.Ser368Cys
  • NP_001395411.1:p.Ser368Cys
  • NP_001395412.1:p.Ser368Cys
  • NP_001395413.1:p.Ser368Cys
  • NP_001395414.1:p.Ser368Cys
  • NP_001395418.1:p.Ser368Cys
  • NP_001395419.1:p.Ser368Cys
  • NP_001395420.1:p.Ser368Cys
  • NP_001395421.1:p.Ser367Cys
  • NP_001395422.1:p.Ser367Cys
  • NP_001395423.1:p.Ser359Cys
  • NP_001395424.1:p.Ser357Cys
  • NP_001395425.1:p.Ser351Cys
  • NP_001395426.1:p.Ser351Cys
  • NP_001395427.1:p.Ser351Cys
  • NP_001395428.1:p.Ser351Cys
  • NP_001395429.1:p.Ser351Cys
  • NP_001395430.1:p.Ser351Cys
  • NP_001395431.1:p.Ser350Cys
  • NP_001395432.1:p.Ser350Cys
  • NP_001395433.1:p.Ser350Cys
  • NP_001395434.1:p.Ser349Cys
  • NP_001395435.1:p.Ser330Cys
  • NP_001395436.1:p.Ser329Cys
  • NP_001395437.1:p.Ser326Cys
  • NP_001395438.1:p.Ser325Cys
  • NP_001395439.1:p.Ser312Cys
  • NP_001395440.1:p.Ser311Cys
  • NP_001395441.1:p.Ser271Cys
  • NP_009225.1:p.Ser1542Cys
  • NP_009225.1:p.Ser1542Cys
  • NP_009228.2:p.Ser1495Cys
  • NP_009229.2:p.Ser438Cys
  • NP_009229.2:p.Ser438Cys
  • NP_009230.2:p.Ser438Cys
  • NP_009231.2:p.Ser1563Cys
  • NP_009235.2:p.Ser438Cys
  • LRG_292t1:c.4625C>G
  • LRG_292:g.143603C>G
  • LRG_292p1:p.Ser1542Cys
  • NC_000017.10:g.41226398G>C
  • NM_007294.3:c.4625C>G
  • NM_007298.3:c.1313C>G
  • NR_027676.2:n.4802C>G
  • U14680.1:n.4744C>G
  • p.S1542C
Protein change:
S1245C
Links:
dbSNP: rs41293457
NCBI 1000 Genomes Browser:
rs41293457
Molecular consequence:
  • NM_001407571.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4691C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4691C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4685C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4685C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4616C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4616C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4613C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4610C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4568C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4565C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4547C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4547C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4547C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4544C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4544C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4544C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4541C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4541C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4541C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4541C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4541C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4478C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4622C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4418C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4418C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4409C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4409C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4409C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4409C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4361C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4355C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4355C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4355C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4502C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4292C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4292C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4292C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4292C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4286C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4286C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4286C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4241C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4241C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4118C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3737C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3734C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2018C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1316C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1307C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1307C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1307C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1304C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1241C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1238C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1235C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1199C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1199C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1199C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1196C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1196C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1196C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1196C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1190C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1181C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1172C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1169C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1169C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1169C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1310C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1115C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1106C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1106C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1106C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1100C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1100C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1070C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.989C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.986C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.977C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.932C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4625C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4802C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000184176Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 28, 2021) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Citation Link,

SCV000911163Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 25, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.

Cortez D, Wang Y, Qin J, Elledge SJ.

Science. 1999 Nov 5;286(5442):1162-6.

PubMed [citation]
PMID:
10550055

BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers.

Shih HA, Nathanson KL, Seal S, Collins N, Stratton MR, Rebbeck TR, Weber BL.

Clin Cancer Res. 2000 Nov;6(11):4259-64.

PubMed [citation]
PMID:
11106241
See all PubMed Citations (13)

Details of each submission

From Ambry Genetics, SCV000184176.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000911163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024