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NM_007294.4(BRCA1):c.4477G>C (p.Val1493Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002328514.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4477G>C (p.Val1493Leu)]

NM_007294.4(BRCA1):c.4477G>C (p.Val1493Leu)

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.4477G>C (p.Val1493Leu)
HGVS:
  • NC_000017.11:g.43076495C>G
  • NG_005905.2:g.141489G>C
  • NM_001407571.1:c.4264G>C
  • NM_001407581.1:c.4543G>C
  • NM_001407582.1:c.4543G>C
  • NM_001407583.1:c.4540G>C
  • NM_001407585.1:c.4540G>C
  • NM_001407587.1:c.4540G>C
  • NM_001407590.1:c.4537G>C
  • NM_001407591.1:c.4537G>C
  • NM_001407593.1:c.4477G>C
  • NM_001407594.1:c.4477G>C
  • NM_001407596.1:c.4477G>C
  • NM_001407597.1:c.4477G>C
  • NM_001407598.1:c.4477G>C
  • NM_001407602.1:c.4477G>C
  • NM_001407603.1:c.4477G>C
  • NM_001407605.1:c.4477G>C
  • NM_001407610.1:c.4474G>C
  • NM_001407611.1:c.4474G>C
  • NM_001407612.1:c.4474G>C
  • NM_001407613.1:c.4474G>C
  • NM_001407614.1:c.4474G>C
  • NM_001407615.1:c.4474G>C
  • NM_001407616.1:c.4474G>C
  • NM_001407617.1:c.4474G>C
  • NM_001407618.1:c.4474G>C
  • NM_001407619.1:c.4474G>C
  • NM_001407620.1:c.4474G>C
  • NM_001407621.1:c.4474G>C
  • NM_001407622.1:c.4474G>C
  • NM_001407623.1:c.4474G>C
  • NM_001407624.1:c.4474G>C
  • NM_001407625.1:c.4474G>C
  • NM_001407626.1:c.4474G>C
  • NM_001407627.1:c.4471G>C
  • NM_001407628.1:c.4471G>C
  • NM_001407629.1:c.4471G>C
  • NM_001407630.1:c.4471G>C
  • NM_001407631.1:c.4471G>C
  • NM_001407632.1:c.4471G>C
  • NM_001407633.1:c.4471G>C
  • NM_001407634.1:c.4471G>C
  • NM_001407635.1:c.4471G>C
  • NM_001407636.1:c.4471G>C
  • NM_001407637.1:c.4471G>C
  • NM_001407638.1:c.4471G>C
  • NM_001407639.1:c.4471G>C
  • NM_001407640.1:c.4471G>C
  • NM_001407641.1:c.4471G>C
  • NM_001407642.1:c.4471G>C
  • NM_001407644.1:c.4468G>C
  • NM_001407645.1:c.4468G>C
  • NM_001407646.1:c.4465G>C
  • NM_001407647.1:c.4462G>C
  • NM_001407648.1:c.4420G>C
  • NM_001407649.1:c.4417G>C
  • NM_001407652.1:c.4477G>C
  • NM_001407653.1:c.4399G>C
  • NM_001407654.1:c.4399G>C
  • NM_001407655.1:c.4399G>C
  • NM_001407656.1:c.4396G>C
  • NM_001407657.1:c.4396G>C
  • NM_001407658.1:c.4396G>C
  • NM_001407659.1:c.4393G>C
  • NM_001407660.1:c.4393G>C
  • NM_001407661.1:c.4393G>C
  • NM_001407662.1:c.4393G>C
  • NM_001407663.1:c.4393G>C
  • NM_001407664.1:c.4354G>C
  • NM_001407665.1:c.4354G>C
  • NM_001407666.1:c.4354G>C
  • NM_001407667.1:c.4354G>C
  • NM_001407668.1:c.4354G>C
  • NM_001407669.1:c.4354G>C
  • NM_001407670.1:c.4351G>C
  • NM_001407671.1:c.4351G>C
  • NM_001407672.1:c.4351G>C
  • NM_001407673.1:c.4351G>C
  • NM_001407674.1:c.4351G>C
  • NM_001407675.1:c.4351G>C
  • NM_001407676.1:c.4351G>C
  • NM_001407677.1:c.4351G>C
  • NM_001407678.1:c.4351G>C
  • NM_001407679.1:c.4351G>C
  • NM_001407680.1:c.4351G>C
  • NM_001407681.1:c.4348G>C
  • NM_001407682.1:c.4348G>C
  • NM_001407683.1:c.4348G>C
  • NM_001407684.1:c.4477G>C
  • NM_001407685.1:c.4348G>C
  • NM_001407686.1:c.4348G>C
  • NM_001407687.1:c.4348G>C
  • NM_001407688.1:c.4348G>C
  • NM_001407689.1:c.4348G>C
  • NM_001407690.1:c.4345G>C
  • NM_001407691.1:c.4345G>C
  • NM_001407692.1:c.4336G>C
  • NM_001407694.1:c.4336G>C
  • NM_001407695.1:c.4336G>C
  • NM_001407696.1:c.4336G>C
  • NM_001407697.1:c.4336G>C
  • NM_001407698.1:c.4336G>C
  • NM_001407724.1:c.4336G>C
  • NM_001407725.1:c.4336G>C
  • NM_001407726.1:c.4336G>C
  • NM_001407727.1:c.4336G>C
  • NM_001407728.1:c.4336G>C
  • NM_001407729.1:c.4336G>C
  • NM_001407730.1:c.4336G>C
  • NM_001407731.1:c.4336G>C
  • NM_001407732.1:c.4333G>C
  • NM_001407733.1:c.4333G>C
  • NM_001407734.1:c.4333G>C
  • NM_001407735.1:c.4333G>C
  • NM_001407736.1:c.4333G>C
  • NM_001407737.1:c.4333G>C
  • NM_001407738.1:c.4333G>C
  • NM_001407739.1:c.4333G>C
  • NM_001407740.1:c.4333G>C
  • NM_001407741.1:c.4333G>C
  • NM_001407742.1:c.4333G>C
  • NM_001407743.1:c.4333G>C
  • NM_001407744.1:c.4333G>C
  • NM_001407745.1:c.4333G>C
  • NM_001407746.1:c.4333G>C
  • NM_001407747.1:c.4333G>C
  • NM_001407748.1:c.4333G>C
  • NM_001407749.1:c.4333G>C
  • NM_001407750.1:c.4333G>C
  • NM_001407751.1:c.4333G>C
  • NM_001407752.1:c.4333G>C
  • NM_001407838.1:c.4330G>C
  • NM_001407839.1:c.4330G>C
  • NM_001407841.1:c.4330G>C
  • NM_001407842.1:c.4330G>C
  • NM_001407843.1:c.4330G>C
  • NM_001407844.1:c.4330G>C
  • NM_001407845.1:c.4330G>C
  • NM_001407846.1:c.4330G>C
  • NM_001407847.1:c.4330G>C
  • NM_001407848.1:c.4330G>C
  • NM_001407849.1:c.4330G>C
  • NM_001407850.1:c.4330G>C
  • NM_001407851.1:c.4330G>C
  • NM_001407852.1:c.4330G>C
  • NM_001407853.1:c.4330G>C
  • NM_001407854.1:c.4477G>C
  • NM_001407858.1:c.4474G>C
  • NM_001407859.1:c.4474G>C
  • NM_001407860.1:c.4474G>C
  • NM_001407861.1:c.4471G>C
  • NM_001407862.1:c.4276G>C
  • NM_001407863.1:c.4351G>C
  • NM_001407874.1:c.4270G>C
  • NM_001407875.1:c.4270G>C
  • NM_001407879.1:c.4267G>C
  • NM_001407881.1:c.4267G>C
  • NM_001407882.1:c.4267G>C
  • NM_001407884.1:c.4267G>C
  • NM_001407885.1:c.4267G>C
  • NM_001407886.1:c.4267G>C
  • NM_001407887.1:c.4267G>C
  • NM_001407889.1:c.4267G>C
  • NM_001407894.1:c.4264G>C
  • NM_001407895.1:c.4264G>C
  • NM_001407896.1:c.4264G>C
  • NM_001407897.1:c.4264G>C
  • NM_001407898.1:c.4264G>C
  • NM_001407899.1:c.4264G>C
  • NM_001407900.1:c.4264G>C
  • NM_001407902.1:c.4264G>C
  • NM_001407904.1:c.4264G>C
  • NM_001407906.1:c.4264G>C
  • NM_001407907.1:c.4264G>C
  • NM_001407908.1:c.4264G>C
  • NM_001407909.1:c.4264G>C
  • NM_001407910.1:c.4264G>C
  • NM_001407915.1:c.4261G>C
  • NM_001407916.1:c.4261G>C
  • NM_001407917.1:c.4261G>C
  • NM_001407918.1:c.4261G>C
  • NM_001407919.1:c.4354G>C
  • NM_001407920.1:c.4213G>C
  • NM_001407921.1:c.4213G>C
  • NM_001407922.1:c.4213G>C
  • NM_001407923.1:c.4213G>C
  • NM_001407924.1:c.4213G>C
  • NM_001407925.1:c.4213G>C
  • NM_001407926.1:c.4213G>C
  • NM_001407927.1:c.4210G>C
  • NM_001407928.1:c.4210G>C
  • NM_001407929.1:c.4210G>C
  • NM_001407930.1:c.4210G>C
  • NM_001407931.1:c.4210G>C
  • NM_001407932.1:c.4210G>C
  • NM_001407933.1:c.4210G>C
  • NM_001407934.1:c.4207G>C
  • NM_001407935.1:c.4207G>C
  • NM_001407936.1:c.4207G>C
  • NM_001407937.1:c.4354G>C
  • NM_001407938.1:c.4354G>C
  • NM_001407939.1:c.4351G>C
  • NM_001407940.1:c.4351G>C
  • NM_001407941.1:c.4348G>C
  • NM_001407942.1:c.4336G>C
  • NM_001407943.1:c.4333G>C
  • NM_001407944.1:c.4333G>C
  • NM_001407945.1:c.4333G>C
  • NM_001407946.1:c.4144G>C
  • NM_001407947.1:c.4144G>C
  • NM_001407948.1:c.4144G>C
  • NM_001407949.1:c.4144G>C
  • NM_001407950.1:c.4141G>C
  • NM_001407951.1:c.4141G>C
  • NM_001407952.1:c.4141G>C
  • NM_001407953.1:c.4141G>C
  • NM_001407954.1:c.4141G>C
  • NM_001407955.1:c.4141G>C
  • NM_001407956.1:c.4138G>C
  • NM_001407957.1:c.4138G>C
  • NM_001407958.1:c.4138G>C
  • NM_001407959.1:c.4096G>C
  • NM_001407960.1:c.4093G>C
  • NM_001407962.1:c.4093G>C
  • NM_001407963.1:c.4090G>C
  • NM_001407965.1:c.3970G>C
  • NM_001407966.1:c.3589G>C
  • NM_001407967.1:c.3586G>C
  • NM_001407968.1:c.1873G>C
  • NM_001407969.1:c.1870G>C
  • NM_001407970.1:c.1234G>C
  • NM_001407971.1:c.1234G>C
  • NM_001407972.1:c.1231G>C
  • NM_001407973.1:c.1168G>C
  • NM_001407974.1:c.1168G>C
  • NM_001407975.1:c.1168G>C
  • NM_001407976.1:c.1168G>C
  • NM_001407977.1:c.1168G>C
  • NM_001407978.1:c.1168G>C
  • NM_001407979.1:c.1165G>C
  • NM_001407980.1:c.1165G>C
  • NM_001407981.1:c.1165G>C
  • NM_001407982.1:c.1165G>C
  • NM_001407983.1:c.1165G>C
  • NM_001407984.1:c.1165G>C
  • NM_001407985.1:c.1165G>C
  • NM_001407986.1:c.1165G>C
  • NM_001407990.1:c.1165G>C
  • NM_001407991.1:c.1165G>C
  • NM_001407992.1:c.1165G>C
  • NM_001407993.1:c.1165G>C
  • NM_001408392.1:c.1162G>C
  • NM_001408396.1:c.1162G>C
  • NM_001408397.1:c.1162G>C
  • NM_001408398.1:c.1162G>C
  • NM_001408399.1:c.1162G>C
  • NM_001408400.1:c.1162G>C
  • NM_001408401.1:c.1162G>C
  • NM_001408402.1:c.1162G>C
  • NM_001408403.1:c.1162G>C
  • NM_001408404.1:c.1162G>C
  • NM_001408406.1:c.1159G>C
  • NM_001408407.1:c.1159G>C
  • NM_001408408.1:c.1159G>C
  • NM_001408409.1:c.1156G>C
  • NM_001408410.1:c.1093G>C
  • NM_001408411.1:c.1090G>C
  • NM_001408412.1:c.1087G>C
  • NM_001408413.1:c.1087G>C
  • NM_001408414.1:c.1087G>C
  • NM_001408415.1:c.1087G>C
  • NM_001408416.1:c.1087G>C
  • NM_001408418.1:c.1051G>C
  • NM_001408419.1:c.1051G>C
  • NM_001408420.1:c.1051G>C
  • NM_001408421.1:c.1048G>C
  • NM_001408422.1:c.1048G>C
  • NM_001408423.1:c.1048G>C
  • NM_001408424.1:c.1048G>C
  • NM_001408425.1:c.1045G>C
  • NM_001408426.1:c.1045G>C
  • NM_001408427.1:c.1045G>C
  • NM_001408428.1:c.1045G>C
  • NM_001408429.1:c.1045G>C
  • NM_001408430.1:c.1045G>C
  • NM_001408431.1:c.1045G>C
  • NM_001408432.1:c.1042G>C
  • NM_001408433.1:c.1042G>C
  • NM_001408434.1:c.1042G>C
  • NM_001408435.1:c.1042G>C
  • NM_001408436.1:c.1042G>C
  • NM_001408437.1:c.1042G>C
  • NM_001408438.1:c.1042G>C
  • NM_001408439.1:c.1042G>C
  • NM_001408440.1:c.1042G>C
  • NM_001408441.1:c.1042G>C
  • NM_001408442.1:c.1042G>C
  • NM_001408443.1:c.1042G>C
  • NM_001408444.1:c.1042G>C
  • NM_001408445.1:c.1039G>C
  • NM_001408446.1:c.1039G>C
  • NM_001408447.1:c.1039G>C
  • NM_001408448.1:c.1039G>C
  • NM_001408450.1:c.1039G>C
  • NM_001408451.1:c.1033G>C
  • NM_001408452.1:c.1027G>C
  • NM_001408453.1:c.1027G>C
  • NM_001408454.1:c.1027G>C
  • NM_001408455.1:c.1027G>C
  • NM_001408456.1:c.1027G>C
  • NM_001408457.1:c.1027G>C
  • NM_001408458.1:c.1024G>C
  • NM_001408459.1:c.1024G>C
  • NM_001408460.1:c.1024G>C
  • NM_001408461.1:c.1024G>C
  • NM_001408462.1:c.1024G>C
  • NM_001408463.1:c.1024G>C
  • NM_001408464.1:c.1024G>C
  • NM_001408465.1:c.1024G>C
  • NM_001408466.1:c.1024G>C
  • NM_001408467.1:c.1024G>C
  • NM_001408468.1:c.1021G>C
  • NM_001408469.1:c.1021G>C
  • NM_001408470.1:c.1021G>C
  • NM_001408472.1:c.1165G>C
  • NM_001408473.1:c.1162G>C
  • NM_001408474.1:c.967G>C
  • NM_001408475.1:c.964G>C
  • NM_001408476.1:c.964G>C
  • NM_001408478.1:c.958G>C
  • NM_001408479.1:c.958G>C
  • NM_001408480.1:c.958G>C
  • NM_001408481.1:c.955G>C
  • NM_001408482.1:c.955G>C
  • NM_001408483.1:c.955G>C
  • NM_001408484.1:c.955G>C
  • NM_001408485.1:c.955G>C
  • NM_001408489.1:c.955G>C
  • NM_001408490.1:c.955G>C
  • NM_001408491.1:c.955G>C
  • NM_001408492.1:c.952G>C
  • NM_001408493.1:c.952G>C
  • NM_001408494.1:c.928G>C
  • NM_001408495.1:c.922G>C
  • NM_001408496.1:c.904G>C
  • NM_001408497.1:c.904G>C
  • NM_001408498.1:c.904G>C
  • NM_001408499.1:c.904G>C
  • NM_001408500.1:c.904G>C
  • NM_001408501.1:c.904G>C
  • NM_001408502.1:c.901G>C
  • NM_001408503.1:c.901G>C
  • NM_001408504.1:c.901G>C
  • NM_001408505.1:c.898G>C
  • NM_001408506.1:c.841G>C
  • NM_001408507.1:c.838G>C
  • NM_001408508.1:c.829G>C
  • NM_001408509.1:c.826G>C
  • NM_001408510.1:c.787G>C
  • NM_001408511.1:c.784G>C
  • NM_001408512.1:c.664G>C
  • NM_007294.4:c.4477G>CMANE SELECT
  • NM_007297.4:c.4336G>C
  • NM_007298.4:c.1165G>C
  • NM_007299.4:c.1165G>C
  • NM_007300.4:c.4540G>C
  • NM_007304.2:c.1165G>C
  • NP_001394500.1:p.Val1422Leu
  • NP_001394510.1:p.Val1515Leu
  • NP_001394511.1:p.Val1515Leu
  • NP_001394512.1:p.Val1514Leu
  • NP_001394514.1:p.Val1514Leu
  • NP_001394516.1:p.Val1514Leu
  • NP_001394519.1:p.Val1513Leu
  • NP_001394520.1:p.Val1513Leu
  • NP_001394522.1:p.Val1493Leu
  • NP_001394523.1:p.Val1493Leu
  • NP_001394525.1:p.Val1493Leu
  • NP_001394526.1:p.Val1493Leu
  • NP_001394527.1:p.Val1493Leu
  • NP_001394531.1:p.Val1493Leu
  • NP_001394532.1:p.Val1493Leu
  • NP_001394534.1:p.Val1493Leu
  • NP_001394539.1:p.Val1492Leu
  • NP_001394540.1:p.Val1492Leu
  • NP_001394541.1:p.Val1492Leu
  • NP_001394542.1:p.Val1492Leu
  • NP_001394543.1:p.Val1492Leu
  • NP_001394544.1:p.Val1492Leu
  • NP_001394545.1:p.Val1492Leu
  • NP_001394546.1:p.Val1492Leu
  • NP_001394547.1:p.Val1492Leu
  • NP_001394548.1:p.Val1492Leu
  • NP_001394549.1:p.Val1492Leu
  • NP_001394550.1:p.Val1492Leu
  • NP_001394551.1:p.Val1492Leu
  • NP_001394552.1:p.Val1492Leu
  • NP_001394553.1:p.Val1492Leu
  • NP_001394554.1:p.Val1492Leu
  • NP_001394555.1:p.Val1492Leu
  • NP_001394556.1:p.Val1491Leu
  • NP_001394557.1:p.Val1491Leu
  • NP_001394558.1:p.Val1491Leu
  • NP_001394559.1:p.Val1491Leu
  • NP_001394560.1:p.Val1491Leu
  • NP_001394561.1:p.Val1491Leu
  • NP_001394562.1:p.Val1491Leu
  • NP_001394563.1:p.Val1491Leu
  • NP_001394564.1:p.Val1491Leu
  • NP_001394565.1:p.Val1491Leu
  • NP_001394566.1:p.Val1491Leu
  • NP_001394567.1:p.Val1491Leu
  • NP_001394568.1:p.Val1491Leu
  • NP_001394569.1:p.Val1491Leu
  • NP_001394570.1:p.Val1491Leu
  • NP_001394571.1:p.Val1491Leu
  • NP_001394573.1:p.Val1490Leu
  • NP_001394574.1:p.Val1490Leu
  • NP_001394575.1:p.Val1489Leu
  • NP_001394576.1:p.Val1488Leu
  • NP_001394577.1:p.Val1474Leu
  • NP_001394578.1:p.Val1473Leu
  • NP_001394581.1:p.Val1493Leu
  • NP_001394582.1:p.Val1467Leu
  • NP_001394583.1:p.Val1467Leu
  • NP_001394584.1:p.Val1467Leu
  • NP_001394585.1:p.Val1466Leu
  • NP_001394586.1:p.Val1466Leu
  • NP_001394587.1:p.Val1466Leu
  • NP_001394588.1:p.Val1465Leu
  • NP_001394589.1:p.Val1465Leu
  • NP_001394590.1:p.Val1465Leu
  • NP_001394591.1:p.Val1465Leu
  • NP_001394592.1:p.Val1465Leu
  • NP_001394593.1:p.Val1452Leu
  • NP_001394594.1:p.Val1452Leu
  • NP_001394595.1:p.Val1452Leu
  • NP_001394596.1:p.Val1452Leu
  • NP_001394597.1:p.Val1452Leu
  • NP_001394598.1:p.Val1452Leu
  • NP_001394599.1:p.Val1451Leu
  • NP_001394600.1:p.Val1451Leu
  • NP_001394601.1:p.Val1451Leu
  • NP_001394602.1:p.Val1451Leu
  • NP_001394603.1:p.Val1451Leu
  • NP_001394604.1:p.Val1451Leu
  • NP_001394605.1:p.Val1451Leu
  • NP_001394606.1:p.Val1451Leu
  • NP_001394607.1:p.Val1451Leu
  • NP_001394608.1:p.Val1451Leu
  • NP_001394609.1:p.Val1451Leu
  • NP_001394610.1:p.Val1450Leu
  • NP_001394611.1:p.Val1450Leu
  • NP_001394612.1:p.Val1450Leu
  • NP_001394613.1:p.Val1493Leu
  • NP_001394614.1:p.Val1450Leu
  • NP_001394615.1:p.Val1450Leu
  • NP_001394616.1:p.Val1450Leu
  • NP_001394617.1:p.Val1450Leu
  • NP_001394618.1:p.Val1450Leu
  • NP_001394619.1:p.Val1449Leu
  • NP_001394620.1:p.Val1449Leu
  • NP_001394621.1:p.Val1446Leu
  • NP_001394623.1:p.Val1446Leu
  • NP_001394624.1:p.Val1446Leu
  • NP_001394625.1:p.Val1446Leu
  • NP_001394626.1:p.Val1446Leu
  • NP_001394627.1:p.Val1446Leu
  • NP_001394653.1:p.Val1446Leu
  • NP_001394654.1:p.Val1446Leu
  • NP_001394655.1:p.Val1446Leu
  • NP_001394656.1:p.Val1446Leu
  • NP_001394657.1:p.Val1446Leu
  • NP_001394658.1:p.Val1446Leu
  • NP_001394659.1:p.Val1446Leu
  • NP_001394660.1:p.Val1446Leu
  • NP_001394661.1:p.Val1445Leu
  • NP_001394662.1:p.Val1445Leu
  • NP_001394663.1:p.Val1445Leu
  • NP_001394664.1:p.Val1445Leu
  • NP_001394665.1:p.Val1445Leu
  • NP_001394666.1:p.Val1445Leu
  • NP_001394667.1:p.Val1445Leu
  • NP_001394668.1:p.Val1445Leu
  • NP_001394669.1:p.Val1445Leu
  • NP_001394670.1:p.Val1445Leu
  • NP_001394671.1:p.Val1445Leu
  • NP_001394672.1:p.Val1445Leu
  • NP_001394673.1:p.Val1445Leu
  • NP_001394674.1:p.Val1445Leu
  • NP_001394675.1:p.Val1445Leu
  • NP_001394676.1:p.Val1445Leu
  • NP_001394677.1:p.Val1445Leu
  • NP_001394678.1:p.Val1445Leu
  • NP_001394679.1:p.Val1445Leu
  • NP_001394680.1:p.Val1445Leu
  • NP_001394681.1:p.Val1445Leu
  • NP_001394767.1:p.Val1444Leu
  • NP_001394768.1:p.Val1444Leu
  • NP_001394770.1:p.Val1444Leu
  • NP_001394771.1:p.Val1444Leu
  • NP_001394772.1:p.Val1444Leu
  • NP_001394773.1:p.Val1444Leu
  • NP_001394774.1:p.Val1444Leu
  • NP_001394775.1:p.Val1444Leu
  • NP_001394776.1:p.Val1444Leu
  • NP_001394777.1:p.Val1444Leu
  • NP_001394778.1:p.Val1444Leu
  • NP_001394779.1:p.Val1444Leu
  • NP_001394780.1:p.Val1444Leu
  • NP_001394781.1:p.Val1444Leu
  • NP_001394782.1:p.Val1444Leu
  • NP_001394783.1:p.Val1493Leu
  • NP_001394787.1:p.Val1492Leu
  • NP_001394788.1:p.Val1492Leu
  • NP_001394789.1:p.Val1492Leu
  • NP_001394790.1:p.Val1491Leu
  • NP_001394791.1:p.Val1426Leu
  • NP_001394792.1:p.Val1451Leu
  • NP_001394803.1:p.Val1424Leu
  • NP_001394804.1:p.Val1424Leu
  • NP_001394808.1:p.Val1423Leu
  • NP_001394810.1:p.Val1423Leu
  • NP_001394811.1:p.Val1423Leu
  • NP_001394813.1:p.Val1423Leu
  • NP_001394814.1:p.Val1423Leu
  • NP_001394815.1:p.Val1423Leu
  • NP_001394816.1:p.Val1423Leu
  • NP_001394818.1:p.Val1423Leu
  • NP_001394823.1:p.Val1422Leu
  • NP_001394824.1:p.Val1422Leu
  • NP_001394825.1:p.Val1422Leu
  • NP_001394826.1:p.Val1422Leu
  • NP_001394827.1:p.Val1422Leu
  • NP_001394828.1:p.Val1422Leu
  • NP_001394829.1:p.Val1422Leu
  • NP_001394831.1:p.Val1422Leu
  • NP_001394833.1:p.Val1422Leu
  • NP_001394835.1:p.Val1422Leu
  • NP_001394836.1:p.Val1422Leu
  • NP_001394837.1:p.Val1422Leu
  • NP_001394838.1:p.Val1422Leu
  • NP_001394839.1:p.Val1422Leu
  • NP_001394844.1:p.Val1421Leu
  • NP_001394845.1:p.Val1421Leu
  • NP_001394846.1:p.Val1421Leu
  • NP_001394847.1:p.Val1421Leu
  • NP_001394848.1:p.Val1452Leu
  • NP_001394849.1:p.Val1405Leu
  • NP_001394850.1:p.Val1405Leu
  • NP_001394851.1:p.Val1405Leu
  • NP_001394852.1:p.Val1405Leu
  • NP_001394853.1:p.Val1405Leu
  • NP_001394854.1:p.Val1405Leu
  • NP_001394855.1:p.Val1405Leu
  • NP_001394856.1:p.Val1404Leu
  • NP_001394857.1:p.Val1404Leu
  • NP_001394858.1:p.Val1404Leu
  • NP_001394859.1:p.Val1404Leu
  • NP_001394860.1:p.Val1404Leu
  • NP_001394861.1:p.Val1404Leu
  • NP_001394862.1:p.Val1404Leu
  • NP_001394863.1:p.Val1403Leu
  • NP_001394864.1:p.Val1403Leu
  • NP_001394865.1:p.Val1403Leu
  • NP_001394866.1:p.Val1452Leu
  • NP_001394867.1:p.Val1452Leu
  • NP_001394868.1:p.Val1451Leu
  • NP_001394869.1:p.Val1451Leu
  • NP_001394870.1:p.Val1450Leu
  • NP_001394871.1:p.Val1446Leu
  • NP_001394872.1:p.Val1445Leu
  • NP_001394873.1:p.Val1445Leu
  • NP_001394874.1:p.Val1445Leu
  • NP_001394875.1:p.Val1382Leu
  • NP_001394876.1:p.Val1382Leu
  • NP_001394877.1:p.Val1382Leu
  • NP_001394878.1:p.Val1382Leu
  • NP_001394879.1:p.Val1381Leu
  • NP_001394880.1:p.Val1381Leu
  • NP_001394881.1:p.Val1381Leu
  • NP_001394882.1:p.Val1381Leu
  • NP_001394883.1:p.Val1381Leu
  • NP_001394884.1:p.Val1381Leu
  • NP_001394885.1:p.Val1380Leu
  • NP_001394886.1:p.Val1380Leu
  • NP_001394887.1:p.Val1380Leu
  • NP_001394888.1:p.Val1366Leu
  • NP_001394889.1:p.Val1365Leu
  • NP_001394891.1:p.Val1365Leu
  • NP_001394892.1:p.Val1364Leu
  • NP_001394894.1:p.Val1324Leu
  • NP_001394895.1:p.Val1197Leu
  • NP_001394896.1:p.Val1196Leu
  • NP_001394897.1:p.Val625Leu
  • NP_001394898.1:p.Val624Leu
  • NP_001394899.1:p.Val412Leu
  • NP_001394900.1:p.Val412Leu
  • NP_001394901.1:p.Val411Leu
  • NP_001394902.1:p.Val390Leu
  • NP_001394903.1:p.Val390Leu
  • NP_001394904.1:p.Val390Leu
  • NP_001394905.1:p.Val390Leu
  • NP_001394906.1:p.Val390Leu
  • NP_001394907.1:p.Val390Leu
  • NP_001394908.1:p.Val389Leu
  • NP_001394909.1:p.Val389Leu
  • NP_001394910.1:p.Val389Leu
  • NP_001394911.1:p.Val389Leu
  • NP_001394912.1:p.Val389Leu
  • NP_001394913.1:p.Val389Leu
  • NP_001394914.1:p.Val389Leu
  • NP_001394915.1:p.Val389Leu
  • NP_001394919.1:p.Val389Leu
  • NP_001394920.1:p.Val389Leu
  • NP_001394921.1:p.Val389Leu
  • NP_001394922.1:p.Val389Leu
  • NP_001395321.1:p.Val388Leu
  • NP_001395325.1:p.Val388Leu
  • NP_001395326.1:p.Val388Leu
  • NP_001395327.1:p.Val388Leu
  • NP_001395328.1:p.Val388Leu
  • NP_001395329.1:p.Val388Leu
  • NP_001395330.1:p.Val388Leu
  • NP_001395331.1:p.Val388Leu
  • NP_001395332.1:p.Val388Leu
  • NP_001395333.1:p.Val388Leu
  • NP_001395335.1:p.Val387Leu
  • NP_001395336.1:p.Val387Leu
  • NP_001395337.1:p.Val387Leu
  • NP_001395338.1:p.Val386Leu
  • NP_001395339.1:p.Val365Leu
  • NP_001395340.1:p.Val364Leu
  • NP_001395341.1:p.Val363Leu
  • NP_001395342.1:p.Val363Leu
  • NP_001395343.1:p.Val363Leu
  • NP_001395344.1:p.Val363Leu
  • NP_001395345.1:p.Val363Leu
  • NP_001395347.1:p.Val351Leu
  • NP_001395348.1:p.Val351Leu
  • NP_001395349.1:p.Val351Leu
  • NP_001395350.1:p.Val350Leu
  • NP_001395351.1:p.Val350Leu
  • NP_001395352.1:p.Val350Leu
  • NP_001395353.1:p.Val350Leu
  • NP_001395354.1:p.Val349Leu
  • NP_001395355.1:p.Val349Leu
  • NP_001395356.1:p.Val349Leu
  • NP_001395357.1:p.Val349Leu
  • NP_001395358.1:p.Val349Leu
  • NP_001395359.1:p.Val349Leu
  • NP_001395360.1:p.Val349Leu
  • NP_001395361.1:p.Val348Leu
  • NP_001395362.1:p.Val348Leu
  • NP_001395363.1:p.Val348Leu
  • NP_001395364.1:p.Val348Leu
  • NP_001395365.1:p.Val348Leu
  • NP_001395366.1:p.Val348Leu
  • NP_001395367.1:p.Val348Leu
  • NP_001395368.1:p.Val348Leu
  • NP_001395369.1:p.Val348Leu
  • NP_001395370.1:p.Val348Leu
  • NP_001395371.1:p.Val348Leu
  • NP_001395372.1:p.Val348Leu
  • NP_001395373.1:p.Val348Leu
  • NP_001395374.1:p.Val347Leu
  • NP_001395375.1:p.Val347Leu
  • NP_001395376.1:p.Val347Leu
  • NP_001395377.1:p.Val347Leu
  • NP_001395379.1:p.Val347Leu
  • NP_001395380.1:p.Val345Leu
  • NP_001395381.1:p.Val343Leu
  • NP_001395382.1:p.Val343Leu
  • NP_001395383.1:p.Val343Leu
  • NP_001395384.1:p.Val343Leu
  • NP_001395385.1:p.Val343Leu
  • NP_001395386.1:p.Val343Leu
  • NP_001395387.1:p.Val342Leu
  • NP_001395388.1:p.Val342Leu
  • NP_001395389.1:p.Val342Leu
  • NP_001395390.1:p.Val342Leu
  • NP_001395391.1:p.Val342Leu
  • NP_001395392.1:p.Val342Leu
  • NP_001395393.1:p.Val342Leu
  • NP_001395394.1:p.Val342Leu
  • NP_001395395.1:p.Val342Leu
  • NP_001395396.1:p.Val342Leu
  • NP_001395397.1:p.Val341Leu
  • NP_001395398.1:p.Val341Leu
  • NP_001395399.1:p.Val341Leu
  • NP_001395401.1:p.Val389Leu
  • NP_001395402.1:p.Val388Leu
  • NP_001395403.1:p.Val323Leu
  • NP_001395404.1:p.Val322Leu
  • NP_001395405.1:p.Val322Leu
  • NP_001395407.1:p.Val320Leu
  • NP_001395408.1:p.Val320Leu
  • NP_001395409.1:p.Val320Leu
  • NP_001395410.1:p.Val319Leu
  • NP_001395411.1:p.Val319Leu
  • NP_001395412.1:p.Val319Leu
  • NP_001395413.1:p.Val319Leu
  • NP_001395414.1:p.Val319Leu
  • NP_001395418.1:p.Val319Leu
  • NP_001395419.1:p.Val319Leu
  • NP_001395420.1:p.Val319Leu
  • NP_001395421.1:p.Val318Leu
  • NP_001395422.1:p.Val318Leu
  • NP_001395423.1:p.Val310Leu
  • NP_001395424.1:p.Val308Leu
  • NP_001395425.1:p.Val302Leu
  • NP_001395426.1:p.Val302Leu
  • NP_001395427.1:p.Val302Leu
  • NP_001395428.1:p.Val302Leu
  • NP_001395429.1:p.Val302Leu
  • NP_001395430.1:p.Val302Leu
  • NP_001395431.1:p.Val301Leu
  • NP_001395432.1:p.Val301Leu
  • NP_001395433.1:p.Val301Leu
  • NP_001395434.1:p.Val300Leu
  • NP_001395435.1:p.Val281Leu
  • NP_001395436.1:p.Val280Leu
  • NP_001395437.1:p.Val277Leu
  • NP_001395438.1:p.Val276Leu
  • NP_001395439.1:p.Val263Leu
  • NP_001395440.1:p.Val262Leu
  • NP_001395441.1:p.Val222Leu
  • NP_009225.1:p.Val1493Leu
  • NP_009225.1:p.Val1493Leu
  • NP_009228.2:p.Val1446Leu
  • NP_009229.2:p.Val389Leu
  • NP_009229.2:p.Val389Leu
  • NP_009230.2:p.Val389Leu
  • NP_009231.2:p.Val1514Leu
  • NP_009235.2:p.Val389Leu
  • LRG_292t1:c.4477G>C
  • LRG_292:g.141489G>C
  • LRG_292p1:p.Val1493Leu
  • NC_000017.10:g.41228512C>G
  • NM_007294.3:c.4477G>C
  • NM_007298.3:c.1165G>C
  • NR_027676.2:n.4654G>C
Protein change:
V1196L
Molecular consequence:
  • NM_001407571.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4468G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4468G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4465G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4462G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4417G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4399G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4399G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4399G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4396G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4396G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4396G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4345G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4345G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4276G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4270G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4270G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4261G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4261G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4261G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4261G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4213G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4210G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4207G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4207G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4207G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4348G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4333G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4144G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4144G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4144G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4144G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4138G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4138G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4138G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4096G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4093G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4093G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4090G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3970G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3589G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3586G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1168G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1156G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1093G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1090G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1045G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1033G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1027G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1024G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1021G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1021G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1021G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.967G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.958G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.958G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.958G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.898G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.826G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.787G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.784G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.664G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4336G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4654G>C - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002636950Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG, Ng CK, De Filippo MR, Zhang Y, Piscuoglio S, Lim RS, Shen R, Norton L, Reis-Filho JS, Weigelt B.

Genome Biol. 2014 Oct 28;15(10):484. doi: 10.1186/s13059-014-0484-1.

PubMed [citation]
PMID:
25348012
PMCID:
PMC4232638

Details of each submission

From Ambry Genetics, SCV002636950.2

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

Description

The p.V1493L variant (also known as c.4477G>C), located in coding exon 12 of the BRCA1 gene, results from a G to C substitution at nucleotide position 4477. The valine at codon 1493 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024