NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 8, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004000918.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly)]
NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly)
- 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.4481A>G (p.Glu1494Gly)
- HGVS:
- NC_000017.11:g.43076491T>C
- NG_005905.2:g.141493A>G
- NM_001407571.1:c.4268A>G
- NM_001407581.1:c.4547A>G
- NM_001407582.1:c.4547A>G
- NM_001407583.1:c.4544A>G
- NM_001407585.1:c.4544A>G
- NM_001407587.1:c.4544A>G
- NM_001407590.1:c.4541A>G
- NM_001407591.1:c.4541A>G
- NM_001407593.1:c.4481A>G
- NM_001407594.1:c.4481A>G
- NM_001407596.1:c.4481A>G
- NM_001407597.1:c.4481A>G
- NM_001407598.1:c.4481A>G
- NM_001407602.1:c.4481A>G
- NM_001407603.1:c.4481A>G
- NM_001407605.1:c.4481A>G
- NM_001407610.1:c.4478A>G
- NM_001407611.1:c.4478A>G
- NM_001407612.1:c.4478A>G
- NM_001407613.1:c.4478A>G
- NM_001407614.1:c.4478A>G
- NM_001407615.1:c.4478A>G
- NM_001407616.1:c.4478A>G
- NM_001407617.1:c.4478A>G
- NM_001407618.1:c.4478A>G
- NM_001407619.1:c.4478A>G
- NM_001407620.1:c.4478A>G
- NM_001407621.1:c.4478A>G
- NM_001407622.1:c.4478A>G
- NM_001407623.1:c.4478A>G
- NM_001407624.1:c.4478A>G
- NM_001407625.1:c.4478A>G
- NM_001407626.1:c.4478A>G
- NM_001407627.1:c.4475A>G
- NM_001407628.1:c.4475A>G
- NM_001407629.1:c.4475A>G
- NM_001407630.1:c.4475A>G
- NM_001407631.1:c.4475A>G
- NM_001407632.1:c.4475A>G
- NM_001407633.1:c.4475A>G
- NM_001407634.1:c.4475A>G
- NM_001407635.1:c.4475A>G
- NM_001407636.1:c.4475A>G
- NM_001407637.1:c.4475A>G
- NM_001407638.1:c.4475A>G
- NM_001407639.1:c.4475A>G
- NM_001407640.1:c.4475A>G
- NM_001407641.1:c.4475A>G
- NM_001407642.1:c.4475A>G
- NM_001407644.1:c.4472A>G
- NM_001407645.1:c.4472A>G
- NM_001407646.1:c.4469A>G
- NM_001407647.1:c.4466A>G
- NM_001407648.1:c.4424A>G
- NM_001407649.1:c.4421A>G
- NM_001407652.1:c.4481A>G
- NM_001407653.1:c.4403A>G
- NM_001407654.1:c.4403A>G
- NM_001407655.1:c.4403A>G
- NM_001407656.1:c.4400A>G
- NM_001407657.1:c.4400A>G
- NM_001407658.1:c.4400A>G
- NM_001407659.1:c.4397A>G
- NM_001407660.1:c.4397A>G
- NM_001407661.1:c.4397A>G
- NM_001407662.1:c.4397A>G
- NM_001407663.1:c.4397A>G
- NM_001407664.1:c.4358A>G
- NM_001407665.1:c.4358A>G
- NM_001407666.1:c.4358A>G
- NM_001407667.1:c.4358A>G
- NM_001407668.1:c.4358A>G
- NM_001407669.1:c.4358A>G
- NM_001407670.1:c.4355A>G
- NM_001407671.1:c.4355A>G
- NM_001407672.1:c.4355A>G
- NM_001407673.1:c.4355A>G
- NM_001407674.1:c.4355A>G
- NM_001407675.1:c.4355A>G
- NM_001407676.1:c.4355A>G
- NM_001407677.1:c.4355A>G
- NM_001407678.1:c.4355A>G
- NM_001407679.1:c.4355A>G
- NM_001407680.1:c.4355A>G
- NM_001407681.1:c.4352A>G
- NM_001407682.1:c.4352A>G
- NM_001407683.1:c.4352A>G
- NM_001407684.1:c.4481A>G
- NM_001407685.1:c.4352A>G
- NM_001407686.1:c.4352A>G
- NM_001407687.1:c.4352A>G
- NM_001407688.1:c.4352A>G
- NM_001407689.1:c.4352A>G
- NM_001407690.1:c.4349A>G
- NM_001407691.1:c.4349A>G
- NM_001407692.1:c.4340A>G
- NM_001407694.1:c.4340A>G
- NM_001407695.1:c.4340A>G
- NM_001407696.1:c.4340A>G
- NM_001407697.1:c.4340A>G
- NM_001407698.1:c.4340A>G
- NM_001407724.1:c.4340A>G
- NM_001407725.1:c.4340A>G
- NM_001407726.1:c.4340A>G
- NM_001407727.1:c.4340A>G
- NM_001407728.1:c.4340A>G
- NM_001407729.1:c.4340A>G
- NM_001407730.1:c.4340A>G
- NM_001407731.1:c.4340A>G
- NM_001407732.1:c.4337A>G
- NM_001407733.1:c.4337A>G
- NM_001407734.1:c.4337A>G
- NM_001407735.1:c.4337A>G
- NM_001407736.1:c.4337A>G
- NM_001407737.1:c.4337A>G
- NM_001407738.1:c.4337A>G
- NM_001407739.1:c.4337A>G
- NM_001407740.1:c.4337A>G
- NM_001407741.1:c.4337A>G
- NM_001407742.1:c.4337A>G
- NM_001407743.1:c.4337A>G
- NM_001407744.1:c.4337A>G
- NM_001407745.1:c.4337A>G
- NM_001407746.1:c.4337A>G
- NM_001407747.1:c.4337A>G
- NM_001407748.1:c.4337A>G
- NM_001407749.1:c.4337A>G
- NM_001407750.1:c.4337A>G
- NM_001407751.1:c.4337A>G
- NM_001407752.1:c.4337A>G
- NM_001407838.1:c.4334A>G
- NM_001407839.1:c.4334A>G
- NM_001407841.1:c.4334A>G
- NM_001407842.1:c.4334A>G
- NM_001407843.1:c.4334A>G
- NM_001407844.1:c.4334A>G
- NM_001407845.1:c.4334A>G
- NM_001407846.1:c.4334A>G
- NM_001407847.1:c.4334A>G
- NM_001407848.1:c.4334A>G
- NM_001407849.1:c.4334A>G
- NM_001407850.1:c.4334A>G
- NM_001407851.1:c.4334A>G
- NM_001407852.1:c.4334A>G
- NM_001407853.1:c.4334A>G
- NM_001407854.1:c.4481A>G
- NM_001407858.1:c.4478A>G
- NM_001407859.1:c.4478A>G
- NM_001407860.1:c.4478A>G
- NM_001407861.1:c.4475A>G
- NM_001407862.1:c.4280A>G
- NM_001407863.1:c.4355A>G
- NM_001407874.1:c.4274A>G
- NM_001407875.1:c.4274A>G
- NM_001407879.1:c.4271A>G
- NM_001407881.1:c.4271A>G
- NM_001407882.1:c.4271A>G
- NM_001407884.1:c.4271A>G
- NM_001407885.1:c.4271A>G
- NM_001407886.1:c.4271A>G
- NM_001407887.1:c.4271A>G
- NM_001407889.1:c.4271A>G
- NM_001407894.1:c.4268A>G
- NM_001407895.1:c.4268A>G
- NM_001407896.1:c.4268A>G
- NM_001407897.1:c.4268A>G
- NM_001407898.1:c.4268A>G
- NM_001407899.1:c.4268A>G
- NM_001407900.1:c.4268A>G
- NM_001407902.1:c.4268A>G
- NM_001407904.1:c.4268A>G
- NM_001407906.1:c.4268A>G
- NM_001407907.1:c.4268A>G
- NM_001407908.1:c.4268A>G
- NM_001407909.1:c.4268A>G
- NM_001407910.1:c.4268A>G
- NM_001407915.1:c.4265A>G
- NM_001407916.1:c.4265A>G
- NM_001407917.1:c.4265A>G
- NM_001407918.1:c.4265A>G
- NM_001407919.1:c.4358A>G
- NM_001407920.1:c.4217A>G
- NM_001407921.1:c.4217A>G
- NM_001407922.1:c.4217A>G
- NM_001407923.1:c.4217A>G
- NM_001407924.1:c.4217A>G
- NM_001407925.1:c.4217A>G
- NM_001407926.1:c.4217A>G
- NM_001407927.1:c.4214A>G
- NM_001407928.1:c.4214A>G
- NM_001407929.1:c.4214A>G
- NM_001407930.1:c.4214A>G
- NM_001407931.1:c.4214A>G
- NM_001407932.1:c.4214A>G
- NM_001407933.1:c.4214A>G
- NM_001407934.1:c.4211A>G
- NM_001407935.1:c.4211A>G
- NM_001407936.1:c.4211A>G
- NM_001407937.1:c.4358A>G
- NM_001407938.1:c.4358A>G
- NM_001407939.1:c.4355A>G
- NM_001407940.1:c.4355A>G
- NM_001407941.1:c.4352A>G
- NM_001407942.1:c.4340A>G
- NM_001407943.1:c.4337A>G
- NM_001407944.1:c.4337A>G
- NM_001407945.1:c.4337A>G
- NM_001407946.1:c.4148A>G
- NM_001407947.1:c.4148A>G
- NM_001407948.1:c.4148A>G
- NM_001407949.1:c.4148A>G
- NM_001407950.1:c.4145A>G
- NM_001407951.1:c.4145A>G
- NM_001407952.1:c.4145A>G
- NM_001407953.1:c.4145A>G
- NM_001407954.1:c.4145A>G
- NM_001407955.1:c.4145A>G
- NM_001407956.1:c.4142A>G
- NM_001407957.1:c.4142A>G
- NM_001407958.1:c.4142A>G
- NM_001407959.1:c.4100A>G
- NM_001407960.1:c.4097A>G
- NM_001407962.1:c.4097A>G
- NM_001407963.1:c.4094A>G
- NM_001407965.1:c.3974A>G
- NM_001407966.1:c.3593A>G
- NM_001407967.1:c.3590A>G
- NM_001407968.1:c.1877A>G
- NM_001407969.1:c.1874A>G
- NM_001407970.1:c.1238A>G
- NM_001407971.1:c.1238A>G
- NM_001407972.1:c.1235A>G
- NM_001407973.1:c.1172A>G
- NM_001407974.1:c.1172A>G
- NM_001407975.1:c.1172A>G
- NM_001407976.1:c.1172A>G
- NM_001407977.1:c.1172A>G
- NM_001407978.1:c.1172A>G
- NM_001407979.1:c.1169A>G
- NM_001407980.1:c.1169A>G
- NM_001407981.1:c.1169A>G
- NM_001407982.1:c.1169A>G
- NM_001407983.1:c.1169A>G
- NM_001407984.1:c.1169A>G
- NM_001407985.1:c.1169A>G
- NM_001407986.1:c.1169A>G
- NM_001407990.1:c.1169A>G
- NM_001407991.1:c.1169A>G
- NM_001407992.1:c.1169A>G
- NM_001407993.1:c.1169A>G
- NM_001408392.1:c.1166A>G
- NM_001408396.1:c.1166A>G
- NM_001408397.1:c.1166A>G
- NM_001408398.1:c.1166A>G
- NM_001408399.1:c.1166A>G
- NM_001408400.1:c.1166A>G
- NM_001408401.1:c.1166A>G
- NM_001408402.1:c.1166A>G
- NM_001408403.1:c.1166A>G
- NM_001408404.1:c.1166A>G
- NM_001408406.1:c.1163A>G
- NM_001408407.1:c.1163A>G
- NM_001408408.1:c.1163A>G
- NM_001408409.1:c.1160A>G
- NM_001408410.1:c.1097A>G
- NM_001408411.1:c.1094A>G
- NM_001408412.1:c.1091A>G
- NM_001408413.1:c.1091A>G
- NM_001408414.1:c.1091A>G
- NM_001408415.1:c.1091A>G
- NM_001408416.1:c.1091A>G
- NM_001408418.1:c.1055A>G
- NM_001408419.1:c.1055A>G
- NM_001408420.1:c.1055A>G
- NM_001408421.1:c.1052A>G
- NM_001408422.1:c.1052A>G
- NM_001408423.1:c.1052A>G
- NM_001408424.1:c.1052A>G
- NM_001408425.1:c.1049A>G
- NM_001408426.1:c.1049A>G
- NM_001408427.1:c.1049A>G
- NM_001408428.1:c.1049A>G
- NM_001408429.1:c.1049A>G
- NM_001408430.1:c.1049A>G
- NM_001408431.1:c.1049A>G
- NM_001408432.1:c.1046A>G
- NM_001408433.1:c.1046A>G
- NM_001408434.1:c.1046A>G
- NM_001408435.1:c.1046A>G
- NM_001408436.1:c.1046A>G
- NM_001408437.1:c.1046A>G
- NM_001408438.1:c.1046A>G
- NM_001408439.1:c.1046A>G
- NM_001408440.1:c.1046A>G
- NM_001408441.1:c.1046A>G
- NM_001408442.1:c.1046A>G
- NM_001408443.1:c.1046A>G
- NM_001408444.1:c.1046A>G
- NM_001408445.1:c.1043A>G
- NM_001408446.1:c.1043A>G
- NM_001408447.1:c.1043A>G
- NM_001408448.1:c.1043A>G
- NM_001408450.1:c.1043A>G
- NM_001408451.1:c.1037A>G
- NM_001408452.1:c.1031A>G
- NM_001408453.1:c.1031A>G
- NM_001408454.1:c.1031A>G
- NM_001408455.1:c.1031A>G
- NM_001408456.1:c.1031A>G
- NM_001408457.1:c.1031A>G
- NM_001408458.1:c.1028A>G
- NM_001408459.1:c.1028A>G
- NM_001408460.1:c.1028A>G
- NM_001408461.1:c.1028A>G
- NM_001408462.1:c.1028A>G
- NM_001408463.1:c.1028A>G
- NM_001408464.1:c.1028A>G
- NM_001408465.1:c.1028A>G
- NM_001408466.1:c.1028A>G
- NM_001408467.1:c.1028A>G
- NM_001408468.1:c.1025A>G
- NM_001408469.1:c.1025A>G
- NM_001408470.1:c.1025A>G
- NM_001408472.1:c.1169A>G
- NM_001408473.1:c.1166A>G
- NM_001408474.1:c.971A>G
- NM_001408475.1:c.968A>G
- NM_001408476.1:c.968A>G
- NM_001408478.1:c.962A>G
- NM_001408479.1:c.962A>G
- NM_001408480.1:c.962A>G
- NM_001408481.1:c.959A>G
- NM_001408482.1:c.959A>G
- NM_001408483.1:c.959A>G
- NM_001408484.1:c.959A>G
- NM_001408485.1:c.959A>G
- NM_001408489.1:c.959A>G
- NM_001408490.1:c.959A>G
- NM_001408491.1:c.959A>G
- NM_001408492.1:c.956A>G
- NM_001408493.1:c.956A>G
- NM_001408494.1:c.932A>G
- NM_001408495.1:c.926A>G
- NM_001408496.1:c.908A>G
- NM_001408497.1:c.908A>G
- NM_001408498.1:c.908A>G
- NM_001408499.1:c.908A>G
- NM_001408500.1:c.908A>G
- NM_001408501.1:c.908A>G
- NM_001408502.1:c.905A>G
- NM_001408503.1:c.905A>G
- NM_001408504.1:c.905A>G
- NM_001408505.1:c.902A>G
- NM_001408506.1:c.845A>G
- NM_001408507.1:c.842A>G
- NM_001408508.1:c.833A>G
- NM_001408509.1:c.830A>G
- NM_001408510.1:c.791A>G
- NM_001408511.1:c.788A>G
- NM_001408512.1:c.668A>G
- NM_007294.4:c.4481A>GMANE SELECT
- NM_007297.4:c.4340A>G
- NM_007298.4:c.1169A>G
- NM_007299.4:c.1169A>G
- NM_007300.4:c.4544A>G
- NM_007304.2:c.1169A>G
- NP_001394500.1:p.Glu1423Gly
- NP_001394510.1:p.Glu1516Gly
- NP_001394511.1:p.Glu1516Gly
- NP_001394512.1:p.Glu1515Gly
- NP_001394514.1:p.Glu1515Gly
- NP_001394516.1:p.Glu1515Gly
- NP_001394519.1:p.Glu1514Gly
- NP_001394520.1:p.Glu1514Gly
- NP_001394522.1:p.Glu1494Gly
- NP_001394523.1:p.Glu1494Gly
- NP_001394525.1:p.Glu1494Gly
- NP_001394526.1:p.Glu1494Gly
- NP_001394527.1:p.Glu1494Gly
- NP_001394531.1:p.Glu1494Gly
- NP_001394532.1:p.Glu1494Gly
- NP_001394534.1:p.Glu1494Gly
- NP_001394539.1:p.Glu1493Gly
- NP_001394540.1:p.Glu1493Gly
- NP_001394541.1:p.Glu1493Gly
- NP_001394542.1:p.Glu1493Gly
- NP_001394543.1:p.Glu1493Gly
- NP_001394544.1:p.Glu1493Gly
- NP_001394545.1:p.Glu1493Gly
- NP_001394546.1:p.Glu1493Gly
- NP_001394547.1:p.Glu1493Gly
- NP_001394548.1:p.Glu1493Gly
- NP_001394549.1:p.Glu1493Gly
- NP_001394550.1:p.Glu1493Gly
- NP_001394551.1:p.Glu1493Gly
- NP_001394552.1:p.Glu1493Gly
- NP_001394553.1:p.Glu1493Gly
- NP_001394554.1:p.Glu1493Gly
- NP_001394555.1:p.Glu1493Gly
- NP_001394556.1:p.Glu1492Gly
- NP_001394557.1:p.Glu1492Gly
- NP_001394558.1:p.Glu1492Gly
- NP_001394559.1:p.Glu1492Gly
- NP_001394560.1:p.Glu1492Gly
- NP_001394561.1:p.Glu1492Gly
- NP_001394562.1:p.Glu1492Gly
- NP_001394563.1:p.Glu1492Gly
- NP_001394564.1:p.Glu1492Gly
- NP_001394565.1:p.Glu1492Gly
- NP_001394566.1:p.Glu1492Gly
- NP_001394567.1:p.Glu1492Gly
- NP_001394568.1:p.Glu1492Gly
- NP_001394569.1:p.Glu1492Gly
- NP_001394570.1:p.Glu1492Gly
- NP_001394571.1:p.Glu1492Gly
- NP_001394573.1:p.Glu1491Gly
- NP_001394574.1:p.Glu1491Gly
- NP_001394575.1:p.Glu1490Gly
- NP_001394576.1:p.Glu1489Gly
- NP_001394577.1:p.Glu1475Gly
- NP_001394578.1:p.Glu1474Gly
- NP_001394581.1:p.Glu1494Gly
- NP_001394582.1:p.Glu1468Gly
- NP_001394583.1:p.Glu1468Gly
- NP_001394584.1:p.Glu1468Gly
- NP_001394585.1:p.Glu1467Gly
- NP_001394586.1:p.Glu1467Gly
- NP_001394587.1:p.Glu1467Gly
- NP_001394588.1:p.Glu1466Gly
- NP_001394589.1:p.Glu1466Gly
- NP_001394590.1:p.Glu1466Gly
- NP_001394591.1:p.Glu1466Gly
- NP_001394592.1:p.Glu1466Gly
- NP_001394593.1:p.Glu1453Gly
- NP_001394594.1:p.Glu1453Gly
- NP_001394595.1:p.Glu1453Gly
- NP_001394596.1:p.Glu1453Gly
- NP_001394597.1:p.Glu1453Gly
- NP_001394598.1:p.Glu1453Gly
- NP_001394599.1:p.Glu1452Gly
- NP_001394600.1:p.Glu1452Gly
- NP_001394601.1:p.Glu1452Gly
- NP_001394602.1:p.Glu1452Gly
- NP_001394603.1:p.Glu1452Gly
- NP_001394604.1:p.Glu1452Gly
- NP_001394605.1:p.Glu1452Gly
- NP_001394606.1:p.Glu1452Gly
- NP_001394607.1:p.Glu1452Gly
- NP_001394608.1:p.Glu1452Gly
- NP_001394609.1:p.Glu1452Gly
- NP_001394610.1:p.Glu1451Gly
- NP_001394611.1:p.Glu1451Gly
- NP_001394612.1:p.Glu1451Gly
- NP_001394613.1:p.Glu1494Gly
- NP_001394614.1:p.Glu1451Gly
- NP_001394615.1:p.Glu1451Gly
- NP_001394616.1:p.Glu1451Gly
- NP_001394617.1:p.Glu1451Gly
- NP_001394618.1:p.Glu1451Gly
- NP_001394619.1:p.Glu1450Gly
- NP_001394620.1:p.Glu1450Gly
- NP_001394621.1:p.Glu1447Gly
- NP_001394623.1:p.Glu1447Gly
- NP_001394624.1:p.Glu1447Gly
- NP_001394625.1:p.Glu1447Gly
- NP_001394626.1:p.Glu1447Gly
- NP_001394627.1:p.Glu1447Gly
- NP_001394653.1:p.Glu1447Gly
- NP_001394654.1:p.Glu1447Gly
- NP_001394655.1:p.Glu1447Gly
- NP_001394656.1:p.Glu1447Gly
- NP_001394657.1:p.Glu1447Gly
- NP_001394658.1:p.Glu1447Gly
- NP_001394659.1:p.Glu1447Gly
- NP_001394660.1:p.Glu1447Gly
- NP_001394661.1:p.Glu1446Gly
- NP_001394662.1:p.Glu1446Gly
- NP_001394663.1:p.Glu1446Gly
- NP_001394664.1:p.Glu1446Gly
- NP_001394665.1:p.Glu1446Gly
- NP_001394666.1:p.Glu1446Gly
- NP_001394667.1:p.Glu1446Gly
- NP_001394668.1:p.Glu1446Gly
- NP_001394669.1:p.Glu1446Gly
- NP_001394670.1:p.Glu1446Gly
- NP_001394671.1:p.Glu1446Gly
- NP_001394672.1:p.Glu1446Gly
- NP_001394673.1:p.Glu1446Gly
- NP_001394674.1:p.Glu1446Gly
- NP_001394675.1:p.Glu1446Gly
- NP_001394676.1:p.Glu1446Gly
- NP_001394677.1:p.Glu1446Gly
- NP_001394678.1:p.Glu1446Gly
- NP_001394679.1:p.Glu1446Gly
- NP_001394680.1:p.Glu1446Gly
- NP_001394681.1:p.Glu1446Gly
- NP_001394767.1:p.Glu1445Gly
- NP_001394768.1:p.Glu1445Gly
- NP_001394770.1:p.Glu1445Gly
- NP_001394771.1:p.Glu1445Gly
- NP_001394772.1:p.Glu1445Gly
- NP_001394773.1:p.Glu1445Gly
- NP_001394774.1:p.Glu1445Gly
- NP_001394775.1:p.Glu1445Gly
- NP_001394776.1:p.Glu1445Gly
- NP_001394777.1:p.Glu1445Gly
- NP_001394778.1:p.Glu1445Gly
- NP_001394779.1:p.Glu1445Gly
- NP_001394780.1:p.Glu1445Gly
- NP_001394781.1:p.Glu1445Gly
- NP_001394782.1:p.Glu1445Gly
- NP_001394783.1:p.Glu1494Gly
- NP_001394787.1:p.Glu1493Gly
- NP_001394788.1:p.Glu1493Gly
- NP_001394789.1:p.Glu1493Gly
- NP_001394790.1:p.Glu1492Gly
- NP_001394791.1:p.Glu1427Gly
- NP_001394792.1:p.Glu1452Gly
- NP_001394803.1:p.Glu1425Gly
- NP_001394804.1:p.Glu1425Gly
- NP_001394808.1:p.Glu1424Gly
- NP_001394810.1:p.Glu1424Gly
- NP_001394811.1:p.Glu1424Gly
- NP_001394813.1:p.Glu1424Gly
- NP_001394814.1:p.Glu1424Gly
- NP_001394815.1:p.Glu1424Gly
- NP_001394816.1:p.Glu1424Gly
- NP_001394818.1:p.Glu1424Gly
- NP_001394823.1:p.Glu1423Gly
- NP_001394824.1:p.Glu1423Gly
- NP_001394825.1:p.Glu1423Gly
- NP_001394826.1:p.Glu1423Gly
- NP_001394827.1:p.Glu1423Gly
- NP_001394828.1:p.Glu1423Gly
- NP_001394829.1:p.Glu1423Gly
- NP_001394831.1:p.Glu1423Gly
- NP_001394833.1:p.Glu1423Gly
- NP_001394835.1:p.Glu1423Gly
- NP_001394836.1:p.Glu1423Gly
- NP_001394837.1:p.Glu1423Gly
- NP_001394838.1:p.Glu1423Gly
- NP_001394839.1:p.Glu1423Gly
- NP_001394844.1:p.Glu1422Gly
- NP_001394845.1:p.Glu1422Gly
- NP_001394846.1:p.Glu1422Gly
- NP_001394847.1:p.Glu1422Gly
- NP_001394848.1:p.Glu1453Gly
- NP_001394849.1:p.Glu1406Gly
- NP_001394850.1:p.Glu1406Gly
- NP_001394851.1:p.Glu1406Gly
- NP_001394852.1:p.Glu1406Gly
- NP_001394853.1:p.Glu1406Gly
- NP_001394854.1:p.Glu1406Gly
- NP_001394855.1:p.Glu1406Gly
- NP_001394856.1:p.Glu1405Gly
- NP_001394857.1:p.Glu1405Gly
- NP_001394858.1:p.Glu1405Gly
- NP_001394859.1:p.Glu1405Gly
- NP_001394860.1:p.Glu1405Gly
- NP_001394861.1:p.Glu1405Gly
- NP_001394862.1:p.Glu1405Gly
- NP_001394863.1:p.Glu1404Gly
- NP_001394864.1:p.Glu1404Gly
- NP_001394865.1:p.Glu1404Gly
- NP_001394866.1:p.Glu1453Gly
- NP_001394867.1:p.Glu1453Gly
- NP_001394868.1:p.Glu1452Gly
- NP_001394869.1:p.Glu1452Gly
- NP_001394870.1:p.Glu1451Gly
- NP_001394871.1:p.Glu1447Gly
- NP_001394872.1:p.Glu1446Gly
- NP_001394873.1:p.Glu1446Gly
- NP_001394874.1:p.Glu1446Gly
- NP_001394875.1:p.Glu1383Gly
- NP_001394876.1:p.Glu1383Gly
- NP_001394877.1:p.Glu1383Gly
- NP_001394878.1:p.Glu1383Gly
- NP_001394879.1:p.Glu1382Gly
- NP_001394880.1:p.Glu1382Gly
- NP_001394881.1:p.Glu1382Gly
- NP_001394882.1:p.Glu1382Gly
- NP_001394883.1:p.Glu1382Gly
- NP_001394884.1:p.Glu1382Gly
- NP_001394885.1:p.Glu1381Gly
- NP_001394886.1:p.Glu1381Gly
- NP_001394887.1:p.Glu1381Gly
- NP_001394888.1:p.Glu1367Gly
- NP_001394889.1:p.Glu1366Gly
- NP_001394891.1:p.Glu1366Gly
- NP_001394892.1:p.Glu1365Gly
- NP_001394894.1:p.Glu1325Gly
- NP_001394895.1:p.Glu1198Gly
- NP_001394896.1:p.Glu1197Gly
- NP_001394897.1:p.Glu626Gly
- NP_001394898.1:p.Glu625Gly
- NP_001394899.1:p.Glu413Gly
- NP_001394900.1:p.Glu413Gly
- NP_001394901.1:p.Glu412Gly
- NP_001394902.1:p.Glu391Gly
- NP_001394903.1:p.Glu391Gly
- NP_001394904.1:p.Glu391Gly
- NP_001394905.1:p.Glu391Gly
- NP_001394906.1:p.Glu391Gly
- NP_001394907.1:p.Glu391Gly
- NP_001394908.1:p.Glu390Gly
- NP_001394909.1:p.Glu390Gly
- NP_001394910.1:p.Glu390Gly
- NP_001394911.1:p.Glu390Gly
- NP_001394912.1:p.Glu390Gly
- NP_001394913.1:p.Glu390Gly
- NP_001394914.1:p.Glu390Gly
- NP_001394915.1:p.Glu390Gly
- NP_001394919.1:p.Glu390Gly
- NP_001394920.1:p.Glu390Gly
- NP_001394921.1:p.Glu390Gly
- NP_001394922.1:p.Glu390Gly
- NP_001395321.1:p.Glu389Gly
- NP_001395325.1:p.Glu389Gly
- NP_001395326.1:p.Glu389Gly
- NP_001395327.1:p.Glu389Gly
- NP_001395328.1:p.Glu389Gly
- NP_001395329.1:p.Glu389Gly
- NP_001395330.1:p.Glu389Gly
- NP_001395331.1:p.Glu389Gly
- NP_001395332.1:p.Glu389Gly
- NP_001395333.1:p.Glu389Gly
- NP_001395335.1:p.Glu388Gly
- NP_001395336.1:p.Glu388Gly
- NP_001395337.1:p.Glu388Gly
- NP_001395338.1:p.Glu387Gly
- NP_001395339.1:p.Glu366Gly
- NP_001395340.1:p.Glu365Gly
- NP_001395341.1:p.Glu364Gly
- NP_001395342.1:p.Glu364Gly
- NP_001395343.1:p.Glu364Gly
- NP_001395344.1:p.Glu364Gly
- NP_001395345.1:p.Glu364Gly
- NP_001395347.1:p.Glu352Gly
- NP_001395348.1:p.Glu352Gly
- NP_001395349.1:p.Glu352Gly
- NP_001395350.1:p.Glu351Gly
- NP_001395351.1:p.Glu351Gly
- NP_001395352.1:p.Glu351Gly
- NP_001395353.1:p.Glu351Gly
- NP_001395354.1:p.Glu350Gly
- NP_001395355.1:p.Glu350Gly
- NP_001395356.1:p.Glu350Gly
- NP_001395357.1:p.Glu350Gly
- NP_001395358.1:p.Glu350Gly
- NP_001395359.1:p.Glu350Gly
- NP_001395360.1:p.Glu350Gly
- NP_001395361.1:p.Glu349Gly
- NP_001395362.1:p.Glu349Gly
- NP_001395363.1:p.Glu349Gly
- NP_001395364.1:p.Glu349Gly
- NP_001395365.1:p.Glu349Gly
- NP_001395366.1:p.Glu349Gly
- NP_001395367.1:p.Glu349Gly
- NP_001395368.1:p.Glu349Gly
- NP_001395369.1:p.Glu349Gly
- NP_001395370.1:p.Glu349Gly
- NP_001395371.1:p.Glu349Gly
- NP_001395372.1:p.Glu349Gly
- NP_001395373.1:p.Glu349Gly
- NP_001395374.1:p.Glu348Gly
- NP_001395375.1:p.Glu348Gly
- NP_001395376.1:p.Glu348Gly
- NP_001395377.1:p.Glu348Gly
- NP_001395379.1:p.Glu348Gly
- NP_001395380.1:p.Glu346Gly
- NP_001395381.1:p.Glu344Gly
- NP_001395382.1:p.Glu344Gly
- NP_001395383.1:p.Glu344Gly
- NP_001395384.1:p.Glu344Gly
- NP_001395385.1:p.Glu344Gly
- NP_001395386.1:p.Glu344Gly
- NP_001395387.1:p.Glu343Gly
- NP_001395388.1:p.Glu343Gly
- NP_001395389.1:p.Glu343Gly
- NP_001395390.1:p.Glu343Gly
- NP_001395391.1:p.Glu343Gly
- NP_001395392.1:p.Glu343Gly
- NP_001395393.1:p.Glu343Gly
- NP_001395394.1:p.Glu343Gly
- NP_001395395.1:p.Glu343Gly
- NP_001395396.1:p.Glu343Gly
- NP_001395397.1:p.Glu342Gly
- NP_001395398.1:p.Glu342Gly
- NP_001395399.1:p.Glu342Gly
- NP_001395401.1:p.Glu390Gly
- NP_001395402.1:p.Glu389Gly
- NP_001395403.1:p.Glu324Gly
- NP_001395404.1:p.Glu323Gly
- NP_001395405.1:p.Glu323Gly
- NP_001395407.1:p.Glu321Gly
- NP_001395408.1:p.Glu321Gly
- NP_001395409.1:p.Glu321Gly
- NP_001395410.1:p.Glu320Gly
- NP_001395411.1:p.Glu320Gly
- NP_001395412.1:p.Glu320Gly
- NP_001395413.1:p.Glu320Gly
- NP_001395414.1:p.Glu320Gly
- NP_001395418.1:p.Glu320Gly
- NP_001395419.1:p.Glu320Gly
- NP_001395420.1:p.Glu320Gly
- NP_001395421.1:p.Glu319Gly
- NP_001395422.1:p.Glu319Gly
- NP_001395423.1:p.Glu311Gly
- NP_001395424.1:p.Glu309Gly
- NP_001395425.1:p.Glu303Gly
- NP_001395426.1:p.Glu303Gly
- NP_001395427.1:p.Glu303Gly
- NP_001395428.1:p.Glu303Gly
- NP_001395429.1:p.Glu303Gly
- NP_001395430.1:p.Glu303Gly
- NP_001395431.1:p.Glu302Gly
- NP_001395432.1:p.Glu302Gly
- NP_001395433.1:p.Glu302Gly
- NP_001395434.1:p.Glu301Gly
- NP_001395435.1:p.Glu282Gly
- NP_001395436.1:p.Glu281Gly
- NP_001395437.1:p.Glu278Gly
- NP_001395438.1:p.Glu277Gly
- NP_001395439.1:p.Glu264Gly
- NP_001395440.1:p.Glu263Gly
- NP_001395441.1:p.Glu223Gly
- NP_009225.1:p.Glu1494Gly
- NP_009225.1:p.Glu1494Gly
- NP_009228.2:p.Glu1447Gly
- NP_009229.2:p.Glu390Gly
- NP_009229.2:p.Glu390Gly
- NP_009230.2:p.Glu390Gly
- NP_009231.2:p.Glu1515Gly
- NP_009235.2:p.Glu390Gly
- LRG_292t1:c.4481A>G
- LRG_292:g.141493A>G
- LRG_292p1:p.Glu1494Gly
- NC_000017.10:g.41228508T>C
- NM_007294.3:c.4481A>G
- NM_007298.3:c.1169A>G
- NR_027676.2:n.4658A>G
This HGVS expression did not pass validation- Protein change:
- E1197G
- Links:
- dbSNP: rs758779691
- NCBI 1000 Genomes Browser:
- rs758779691
- Molecular consequence:
- NM_001407571.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4547A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4547A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4472A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4472A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4466A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4424A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4349A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4349A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4274A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4274A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4271A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4268A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4211A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4211A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4211A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4358A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4355A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4352A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4337A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4142A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4142A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4142A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4100A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4097A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4097A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4094A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3593A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3590A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1877A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1874A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1238A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1238A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1097A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1049A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1046A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1037A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1028A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.956A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.956A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.902A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.842A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.833A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.830A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.791A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.668A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.4658A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Observations:
- 2
Condition(s)
-
Streptococcus agalactiae strain 750_SAGA 25_589_8609, whole genome shotgun seque...
Streptococcus agalactiae strain 750_SAGA 25_589_8609, whole genome shotgun sequencegi|896555982|ref|NZ_JUUN01000015.1| WGS:NZ_JUUN01|25_589_8609Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004817667 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (Jun 8, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | 2 | not provided | not provided | 108544 | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From All of Us Research Program, National Institutes of Health, SCV004817667.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 2 | not provided | not provided | clinical testing | PubMed (1) |
Description
This missense variant replaces glutamic acid with glycine at codon 1494 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has been identified in 1/251220 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 2 | not provided | not provided | not provided |
Last Updated: Oct 8, 2024