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NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Dec 12, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000588631.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)]

NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)

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.4480G>A (p.Glu1494Lys)
HGVS:
  • NC_000017.11:g.43076492C>T
  • NG_005905.2:g.141492G>A
  • NM_001407571.1:c.4267G>A
  • NM_001407581.1:c.4546G>A
  • NM_001407582.1:c.4546G>A
  • NM_001407583.1:c.4543G>A
  • NM_001407585.1:c.4543G>A
  • NM_001407587.1:c.4543G>A
  • NM_001407590.1:c.4540G>A
  • NM_001407591.1:c.4540G>A
  • NM_001407593.1:c.4480G>A
  • NM_001407594.1:c.4480G>A
  • NM_001407596.1:c.4480G>A
  • NM_001407597.1:c.4480G>A
  • NM_001407598.1:c.4480G>A
  • NM_001407602.1:c.4480G>A
  • NM_001407603.1:c.4480G>A
  • NM_001407605.1:c.4480G>A
  • NM_001407610.1:c.4477G>A
  • NM_001407611.1:c.4477G>A
  • NM_001407612.1:c.4477G>A
  • NM_001407613.1:c.4477G>A
  • NM_001407614.1:c.4477G>A
  • NM_001407615.1:c.4477G>A
  • NM_001407616.1:c.4477G>A
  • NM_001407617.1:c.4477G>A
  • NM_001407618.1:c.4477G>A
  • NM_001407619.1:c.4477G>A
  • NM_001407620.1:c.4477G>A
  • NM_001407621.1:c.4477G>A
  • NM_001407622.1:c.4477G>A
  • NM_001407623.1:c.4477G>A
  • NM_001407624.1:c.4477G>A
  • NM_001407625.1:c.4477G>A
  • NM_001407626.1:c.4477G>A
  • NM_001407627.1:c.4474G>A
  • NM_001407628.1:c.4474G>A
  • NM_001407629.1:c.4474G>A
  • NM_001407630.1:c.4474G>A
  • NM_001407631.1:c.4474G>A
  • NM_001407632.1:c.4474G>A
  • NM_001407633.1:c.4474G>A
  • NM_001407634.1:c.4474G>A
  • NM_001407635.1:c.4474G>A
  • NM_001407636.1:c.4474G>A
  • NM_001407637.1:c.4474G>A
  • NM_001407638.1:c.4474G>A
  • NM_001407639.1:c.4474G>A
  • NM_001407640.1:c.4474G>A
  • NM_001407641.1:c.4474G>A
  • NM_001407642.1:c.4474G>A
  • NM_001407644.1:c.4471G>A
  • NM_001407645.1:c.4471G>A
  • NM_001407646.1:c.4468G>A
  • NM_001407647.1:c.4465G>A
  • NM_001407648.1:c.4423G>A
  • NM_001407649.1:c.4420G>A
  • NM_001407652.1:c.4480G>A
  • NM_001407653.1:c.4402G>A
  • NM_001407654.1:c.4402G>A
  • NM_001407655.1:c.4402G>A
  • NM_001407656.1:c.4399G>A
  • NM_001407657.1:c.4399G>A
  • NM_001407658.1:c.4399G>A
  • NM_001407659.1:c.4396G>A
  • NM_001407660.1:c.4396G>A
  • NM_001407661.1:c.4396G>A
  • NM_001407662.1:c.4396G>A
  • NM_001407663.1:c.4396G>A
  • NM_001407664.1:c.4357G>A
  • NM_001407665.1:c.4357G>A
  • NM_001407666.1:c.4357G>A
  • NM_001407667.1:c.4357G>A
  • NM_001407668.1:c.4357G>A
  • NM_001407669.1:c.4357G>A
  • NM_001407670.1:c.4354G>A
  • NM_001407671.1:c.4354G>A
  • NM_001407672.1:c.4354G>A
  • NM_001407673.1:c.4354G>A
  • NM_001407674.1:c.4354G>A
  • NM_001407675.1:c.4354G>A
  • NM_001407676.1:c.4354G>A
  • NM_001407677.1:c.4354G>A
  • NM_001407678.1:c.4354G>A
  • NM_001407679.1:c.4354G>A
  • NM_001407680.1:c.4354G>A
  • NM_001407681.1:c.4351G>A
  • NM_001407682.1:c.4351G>A
  • NM_001407683.1:c.4351G>A
  • NM_001407684.1:c.4480G>A
  • NM_001407685.1:c.4351G>A
  • NM_001407686.1:c.4351G>A
  • NM_001407687.1:c.4351G>A
  • NM_001407688.1:c.4351G>A
  • NM_001407689.1:c.4351G>A
  • NM_001407690.1:c.4348G>A
  • NM_001407691.1:c.4348G>A
  • NM_001407692.1:c.4339G>A
  • NM_001407694.1:c.4339G>A
  • NM_001407695.1:c.4339G>A
  • NM_001407696.1:c.4339G>A
  • NM_001407697.1:c.4339G>A
  • NM_001407698.1:c.4339G>A
  • NM_001407724.1:c.4339G>A
  • NM_001407725.1:c.4339G>A
  • NM_001407726.1:c.4339G>A
  • NM_001407727.1:c.4339G>A
  • NM_001407728.1:c.4339G>A
  • NM_001407729.1:c.4339G>A
  • NM_001407730.1:c.4339G>A
  • NM_001407731.1:c.4339G>A
  • NM_001407732.1:c.4336G>A
  • NM_001407733.1:c.4336G>A
  • NM_001407734.1:c.4336G>A
  • NM_001407735.1:c.4336G>A
  • NM_001407736.1:c.4336G>A
  • NM_001407737.1:c.4336G>A
  • NM_001407738.1:c.4336G>A
  • NM_001407739.1:c.4336G>A
  • NM_001407740.1:c.4336G>A
  • NM_001407741.1:c.4336G>A
  • NM_001407742.1:c.4336G>A
  • NM_001407743.1:c.4336G>A
  • NM_001407744.1:c.4336G>A
  • NM_001407745.1:c.4336G>A
  • NM_001407746.1:c.4336G>A
  • NM_001407747.1:c.4336G>A
  • NM_001407748.1:c.4336G>A
  • NM_001407749.1:c.4336G>A
  • NM_001407750.1:c.4336G>A
  • NM_001407751.1:c.4336G>A
  • NM_001407752.1:c.4336G>A
  • NM_001407838.1:c.4333G>A
  • NM_001407839.1:c.4333G>A
  • NM_001407841.1:c.4333G>A
  • NM_001407842.1:c.4333G>A
  • NM_001407843.1:c.4333G>A
  • NM_001407844.1:c.4333G>A
  • NM_001407845.1:c.4333G>A
  • NM_001407846.1:c.4333G>A
  • NM_001407847.1:c.4333G>A
  • NM_001407848.1:c.4333G>A
  • NM_001407849.1:c.4333G>A
  • NM_001407850.1:c.4333G>A
  • NM_001407851.1:c.4333G>A
  • NM_001407852.1:c.4333G>A
  • NM_001407853.1:c.4333G>A
  • NM_001407854.1:c.4480G>A
  • NM_001407858.1:c.4477G>A
  • NM_001407859.1:c.4477G>A
  • NM_001407860.1:c.4477G>A
  • NM_001407861.1:c.4474G>A
  • NM_001407862.1:c.4279G>A
  • NM_001407863.1:c.4354G>A
  • NM_001407874.1:c.4273G>A
  • NM_001407875.1:c.4273G>A
  • NM_001407879.1:c.4270G>A
  • NM_001407881.1:c.4270G>A
  • NM_001407882.1:c.4270G>A
  • NM_001407884.1:c.4270G>A
  • NM_001407885.1:c.4270G>A
  • NM_001407886.1:c.4270G>A
  • NM_001407887.1:c.4270G>A
  • NM_001407889.1:c.4270G>A
  • NM_001407894.1:c.4267G>A
  • NM_001407895.1:c.4267G>A
  • NM_001407896.1:c.4267G>A
  • NM_001407897.1:c.4267G>A
  • NM_001407898.1:c.4267G>A
  • NM_001407899.1:c.4267G>A
  • NM_001407900.1:c.4267G>A
  • NM_001407902.1:c.4267G>A
  • NM_001407904.1:c.4267G>A
  • NM_001407906.1:c.4267G>A
  • NM_001407907.1:c.4267G>A
  • NM_001407908.1:c.4267G>A
  • NM_001407909.1:c.4267G>A
  • NM_001407910.1:c.4267G>A
  • NM_001407915.1:c.4264G>A
  • NM_001407916.1:c.4264G>A
  • NM_001407917.1:c.4264G>A
  • NM_001407918.1:c.4264G>A
  • NM_001407919.1:c.4357G>A
  • NM_001407920.1:c.4216G>A
  • NM_001407921.1:c.4216G>A
  • NM_001407922.1:c.4216G>A
  • NM_001407923.1:c.4216G>A
  • NM_001407924.1:c.4216G>A
  • NM_001407925.1:c.4216G>A
  • NM_001407926.1:c.4216G>A
  • NM_001407927.1:c.4213G>A
  • NM_001407928.1:c.4213G>A
  • NM_001407929.1:c.4213G>A
  • NM_001407930.1:c.4213G>A
  • NM_001407931.1:c.4213G>A
  • NM_001407932.1:c.4213G>A
  • NM_001407933.1:c.4213G>A
  • NM_001407934.1:c.4210G>A
  • NM_001407935.1:c.4210G>A
  • NM_001407936.1:c.4210G>A
  • NM_001407937.1:c.4357G>A
  • NM_001407938.1:c.4357G>A
  • NM_001407939.1:c.4354G>A
  • NM_001407940.1:c.4354G>A
  • NM_001407941.1:c.4351G>A
  • NM_001407942.1:c.4339G>A
  • NM_001407943.1:c.4336G>A
  • NM_001407944.1:c.4336G>A
  • NM_001407945.1:c.4336G>A
  • NM_001407946.1:c.4147G>A
  • NM_001407947.1:c.4147G>A
  • NM_001407948.1:c.4147G>A
  • NM_001407949.1:c.4147G>A
  • NM_001407950.1:c.4144G>A
  • NM_001407951.1:c.4144G>A
  • NM_001407952.1:c.4144G>A
  • NM_001407953.1:c.4144G>A
  • NM_001407954.1:c.4144G>A
  • NM_001407955.1:c.4144G>A
  • NM_001407956.1:c.4141G>A
  • NM_001407957.1:c.4141G>A
  • NM_001407958.1:c.4141G>A
  • NM_001407959.1:c.4099G>A
  • NM_001407960.1:c.4096G>A
  • NM_001407962.1:c.4096G>A
  • NM_001407963.1:c.4093G>A
  • NM_001407965.1:c.3973G>A
  • NM_001407966.1:c.3592G>A
  • NM_001407967.1:c.3589G>A
  • NM_001407968.1:c.1876G>A
  • NM_001407969.1:c.1873G>A
  • NM_001407970.1:c.1237G>A
  • NM_001407971.1:c.1237G>A
  • NM_001407972.1:c.1234G>A
  • NM_001407973.1:c.1171G>A
  • NM_001407974.1:c.1171G>A
  • NM_001407975.1:c.1171G>A
  • NM_001407976.1:c.1171G>A
  • NM_001407977.1:c.1171G>A
  • NM_001407978.1:c.1171G>A
  • NM_001407979.1:c.1168G>A
  • NM_001407980.1:c.1168G>A
  • NM_001407981.1:c.1168G>A
  • NM_001407982.1:c.1168G>A
  • NM_001407983.1:c.1168G>A
  • NM_001407984.1:c.1168G>A
  • NM_001407985.1:c.1168G>A
  • NM_001407986.1:c.1168G>A
  • NM_001407990.1:c.1168G>A
  • NM_001407991.1:c.1168G>A
  • NM_001407992.1:c.1168G>A
  • NM_001407993.1:c.1168G>A
  • NM_001408392.1:c.1165G>A
  • NM_001408396.1:c.1165G>A
  • NM_001408397.1:c.1165G>A
  • NM_001408398.1:c.1165G>A
  • NM_001408399.1:c.1165G>A
  • NM_001408400.1:c.1165G>A
  • NM_001408401.1:c.1165G>A
  • NM_001408402.1:c.1165G>A
  • NM_001408403.1:c.1165G>A
  • NM_001408404.1:c.1165G>A
  • NM_001408406.1:c.1162G>A
  • NM_001408407.1:c.1162G>A
  • NM_001408408.1:c.1162G>A
  • NM_001408409.1:c.1159G>A
  • NM_001408410.1:c.1096G>A
  • NM_001408411.1:c.1093G>A
  • NM_001408412.1:c.1090G>A
  • NM_001408413.1:c.1090G>A
  • NM_001408414.1:c.1090G>A
  • NM_001408415.1:c.1090G>A
  • NM_001408416.1:c.1090G>A
  • NM_001408418.1:c.1054G>A
  • NM_001408419.1:c.1054G>A
  • NM_001408420.1:c.1054G>A
  • NM_001408421.1:c.1051G>A
  • NM_001408422.1:c.1051G>A
  • NM_001408423.1:c.1051G>A
  • NM_001408424.1:c.1051G>A
  • NM_001408425.1:c.1048G>A
  • NM_001408426.1:c.1048G>A
  • NM_001408427.1:c.1048G>A
  • NM_001408428.1:c.1048G>A
  • NM_001408429.1:c.1048G>A
  • NM_001408430.1:c.1048G>A
  • NM_001408431.1:c.1048G>A
  • NM_001408432.1:c.1045G>A
  • NM_001408433.1:c.1045G>A
  • NM_001408434.1:c.1045G>A
  • NM_001408435.1:c.1045G>A
  • NM_001408436.1:c.1045G>A
  • NM_001408437.1:c.1045G>A
  • NM_001408438.1:c.1045G>A
  • NM_001408439.1:c.1045G>A
  • NM_001408440.1:c.1045G>A
  • NM_001408441.1:c.1045G>A
  • NM_001408442.1:c.1045G>A
  • NM_001408443.1:c.1045G>A
  • NM_001408444.1:c.1045G>A
  • NM_001408445.1:c.1042G>A
  • NM_001408446.1:c.1042G>A
  • NM_001408447.1:c.1042G>A
  • NM_001408448.1:c.1042G>A
  • NM_001408450.1:c.1042G>A
  • NM_001408451.1:c.1036G>A
  • NM_001408452.1:c.1030G>A
  • NM_001408453.1:c.1030G>A
  • NM_001408454.1:c.1030G>A
  • NM_001408455.1:c.1030G>A
  • NM_001408456.1:c.1030G>A
  • NM_001408457.1:c.1030G>A
  • NM_001408458.1:c.1027G>A
  • NM_001408459.1:c.1027G>A
  • NM_001408460.1:c.1027G>A
  • NM_001408461.1:c.1027G>A
  • NM_001408462.1:c.1027G>A
  • NM_001408463.1:c.1027G>A
  • NM_001408464.1:c.1027G>A
  • NM_001408465.1:c.1027G>A
  • NM_001408466.1:c.1027G>A
  • NM_001408467.1:c.1027G>A
  • NM_001408468.1:c.1024G>A
  • NM_001408469.1:c.1024G>A
  • NM_001408470.1:c.1024G>A
  • NM_001408472.1:c.1168G>A
  • NM_001408473.1:c.1165G>A
  • NM_001408474.1:c.970G>A
  • NM_001408475.1:c.967G>A
  • NM_001408476.1:c.967G>A
  • NM_001408478.1:c.961G>A
  • NM_001408479.1:c.961G>A
  • NM_001408480.1:c.961G>A
  • NM_001408481.1:c.958G>A
  • NM_001408482.1:c.958G>A
  • NM_001408483.1:c.958G>A
  • NM_001408484.1:c.958G>A
  • NM_001408485.1:c.958G>A
  • NM_001408489.1:c.958G>A
  • NM_001408490.1:c.958G>A
  • NM_001408491.1:c.958G>A
  • NM_001408492.1:c.955G>A
  • NM_001408493.1:c.955G>A
  • NM_001408494.1:c.931G>A
  • NM_001408495.1:c.925G>A
  • NM_001408496.1:c.907G>A
  • NM_001408497.1:c.907G>A
  • NM_001408498.1:c.907G>A
  • NM_001408499.1:c.907G>A
  • NM_001408500.1:c.907G>A
  • NM_001408501.1:c.907G>A
  • NM_001408502.1:c.904G>A
  • NM_001408503.1:c.904G>A
  • NM_001408504.1:c.904G>A
  • NM_001408505.1:c.901G>A
  • NM_001408506.1:c.844G>A
  • NM_001408507.1:c.841G>A
  • NM_001408508.1:c.832G>A
  • NM_001408509.1:c.829G>A
  • NM_001408510.1:c.790G>A
  • NM_001408511.1:c.787G>A
  • NM_001408512.1:c.667G>A
  • NM_007294.4:c.4480G>AMANE SELECT
  • NM_007297.4:c.4339G>A
  • NM_007298.4:c.1168G>A
  • NM_007299.4:c.1168G>A
  • NM_007300.4:c.4543G>A
  • NM_007304.2:c.1168G>A
  • NP_001394500.1:p.Glu1423Lys
  • NP_001394510.1:p.Glu1516Lys
  • NP_001394511.1:p.Glu1516Lys
  • NP_001394512.1:p.Glu1515Lys
  • NP_001394514.1:p.Glu1515Lys
  • NP_001394516.1:p.Glu1515Lys
  • NP_001394519.1:p.Glu1514Lys
  • NP_001394520.1:p.Glu1514Lys
  • NP_001394522.1:p.Glu1494Lys
  • NP_001394523.1:p.Glu1494Lys
  • NP_001394525.1:p.Glu1494Lys
  • NP_001394526.1:p.Glu1494Lys
  • NP_001394527.1:p.Glu1494Lys
  • NP_001394531.1:p.Glu1494Lys
  • NP_001394532.1:p.Glu1494Lys
  • NP_001394534.1:p.Glu1494Lys
  • NP_001394539.1:p.Glu1493Lys
  • NP_001394540.1:p.Glu1493Lys
  • NP_001394541.1:p.Glu1493Lys
  • NP_001394542.1:p.Glu1493Lys
  • NP_001394543.1:p.Glu1493Lys
  • NP_001394544.1:p.Glu1493Lys
  • NP_001394545.1:p.Glu1493Lys
  • NP_001394546.1:p.Glu1493Lys
  • NP_001394547.1:p.Glu1493Lys
  • NP_001394548.1:p.Glu1493Lys
  • NP_001394549.1:p.Glu1493Lys
  • NP_001394550.1:p.Glu1493Lys
  • NP_001394551.1:p.Glu1493Lys
  • NP_001394552.1:p.Glu1493Lys
  • NP_001394553.1:p.Glu1493Lys
  • NP_001394554.1:p.Glu1493Lys
  • NP_001394555.1:p.Glu1493Lys
  • NP_001394556.1:p.Glu1492Lys
  • NP_001394557.1:p.Glu1492Lys
  • NP_001394558.1:p.Glu1492Lys
  • NP_001394559.1:p.Glu1492Lys
  • NP_001394560.1:p.Glu1492Lys
  • NP_001394561.1:p.Glu1492Lys
  • NP_001394562.1:p.Glu1492Lys
  • NP_001394563.1:p.Glu1492Lys
  • NP_001394564.1:p.Glu1492Lys
  • NP_001394565.1:p.Glu1492Lys
  • NP_001394566.1:p.Glu1492Lys
  • NP_001394567.1:p.Glu1492Lys
  • NP_001394568.1:p.Glu1492Lys
  • NP_001394569.1:p.Glu1492Lys
  • NP_001394570.1:p.Glu1492Lys
  • NP_001394571.1:p.Glu1492Lys
  • NP_001394573.1:p.Glu1491Lys
  • NP_001394574.1:p.Glu1491Lys
  • NP_001394575.1:p.Glu1490Lys
  • NP_001394576.1:p.Glu1489Lys
  • NP_001394577.1:p.Glu1475Lys
  • NP_001394578.1:p.Glu1474Lys
  • NP_001394581.1:p.Glu1494Lys
  • NP_001394582.1:p.Glu1468Lys
  • NP_001394583.1:p.Glu1468Lys
  • NP_001394584.1:p.Glu1468Lys
  • NP_001394585.1:p.Glu1467Lys
  • NP_001394586.1:p.Glu1467Lys
  • NP_001394587.1:p.Glu1467Lys
  • NP_001394588.1:p.Glu1466Lys
  • NP_001394589.1:p.Glu1466Lys
  • NP_001394590.1:p.Glu1466Lys
  • NP_001394591.1:p.Glu1466Lys
  • NP_001394592.1:p.Glu1466Lys
  • NP_001394593.1:p.Glu1453Lys
  • NP_001394594.1:p.Glu1453Lys
  • NP_001394595.1:p.Glu1453Lys
  • NP_001394596.1:p.Glu1453Lys
  • NP_001394597.1:p.Glu1453Lys
  • NP_001394598.1:p.Glu1453Lys
  • NP_001394599.1:p.Glu1452Lys
  • NP_001394600.1:p.Glu1452Lys
  • NP_001394601.1:p.Glu1452Lys
  • NP_001394602.1:p.Glu1452Lys
  • NP_001394603.1:p.Glu1452Lys
  • NP_001394604.1:p.Glu1452Lys
  • NP_001394605.1:p.Glu1452Lys
  • NP_001394606.1:p.Glu1452Lys
  • NP_001394607.1:p.Glu1452Lys
  • NP_001394608.1:p.Glu1452Lys
  • NP_001394609.1:p.Glu1452Lys
  • NP_001394610.1:p.Glu1451Lys
  • NP_001394611.1:p.Glu1451Lys
  • NP_001394612.1:p.Glu1451Lys
  • NP_001394613.1:p.Glu1494Lys
  • NP_001394614.1:p.Glu1451Lys
  • NP_001394615.1:p.Glu1451Lys
  • NP_001394616.1:p.Glu1451Lys
  • NP_001394617.1:p.Glu1451Lys
  • NP_001394618.1:p.Glu1451Lys
  • NP_001394619.1:p.Glu1450Lys
  • NP_001394620.1:p.Glu1450Lys
  • NP_001394621.1:p.Glu1447Lys
  • NP_001394623.1:p.Glu1447Lys
  • NP_001394624.1:p.Glu1447Lys
  • NP_001394625.1:p.Glu1447Lys
  • NP_001394626.1:p.Glu1447Lys
  • NP_001394627.1:p.Glu1447Lys
  • NP_001394653.1:p.Glu1447Lys
  • NP_001394654.1:p.Glu1447Lys
  • NP_001394655.1:p.Glu1447Lys
  • NP_001394656.1:p.Glu1447Lys
  • NP_001394657.1:p.Glu1447Lys
  • NP_001394658.1:p.Glu1447Lys
  • NP_001394659.1:p.Glu1447Lys
  • NP_001394660.1:p.Glu1447Lys
  • NP_001394661.1:p.Glu1446Lys
  • NP_001394662.1:p.Glu1446Lys
  • NP_001394663.1:p.Glu1446Lys
  • NP_001394664.1:p.Glu1446Lys
  • NP_001394665.1:p.Glu1446Lys
  • NP_001394666.1:p.Glu1446Lys
  • NP_001394667.1:p.Glu1446Lys
  • NP_001394668.1:p.Glu1446Lys
  • NP_001394669.1:p.Glu1446Lys
  • NP_001394670.1:p.Glu1446Lys
  • NP_001394671.1:p.Glu1446Lys
  • NP_001394672.1:p.Glu1446Lys
  • NP_001394673.1:p.Glu1446Lys
  • NP_001394674.1:p.Glu1446Lys
  • NP_001394675.1:p.Glu1446Lys
  • NP_001394676.1:p.Glu1446Lys
  • NP_001394677.1:p.Glu1446Lys
  • NP_001394678.1:p.Glu1446Lys
  • NP_001394679.1:p.Glu1446Lys
  • NP_001394680.1:p.Glu1446Lys
  • NP_001394681.1:p.Glu1446Lys
  • NP_001394767.1:p.Glu1445Lys
  • NP_001394768.1:p.Glu1445Lys
  • NP_001394770.1:p.Glu1445Lys
  • NP_001394771.1:p.Glu1445Lys
  • NP_001394772.1:p.Glu1445Lys
  • NP_001394773.1:p.Glu1445Lys
  • NP_001394774.1:p.Glu1445Lys
  • NP_001394775.1:p.Glu1445Lys
  • NP_001394776.1:p.Glu1445Lys
  • NP_001394777.1:p.Glu1445Lys
  • NP_001394778.1:p.Glu1445Lys
  • NP_001394779.1:p.Glu1445Lys
  • NP_001394780.1:p.Glu1445Lys
  • NP_001394781.1:p.Glu1445Lys
  • NP_001394782.1:p.Glu1445Lys
  • NP_001394783.1:p.Glu1494Lys
  • NP_001394787.1:p.Glu1493Lys
  • NP_001394788.1:p.Glu1493Lys
  • NP_001394789.1:p.Glu1493Lys
  • NP_001394790.1:p.Glu1492Lys
  • NP_001394791.1:p.Glu1427Lys
  • NP_001394792.1:p.Glu1452Lys
  • NP_001394803.1:p.Glu1425Lys
  • NP_001394804.1:p.Glu1425Lys
  • NP_001394808.1:p.Glu1424Lys
  • NP_001394810.1:p.Glu1424Lys
  • NP_001394811.1:p.Glu1424Lys
  • NP_001394813.1:p.Glu1424Lys
  • NP_001394814.1:p.Glu1424Lys
  • NP_001394815.1:p.Glu1424Lys
  • NP_001394816.1:p.Glu1424Lys
  • NP_001394818.1:p.Glu1424Lys
  • NP_001394823.1:p.Glu1423Lys
  • NP_001394824.1:p.Glu1423Lys
  • NP_001394825.1:p.Glu1423Lys
  • NP_001394826.1:p.Glu1423Lys
  • NP_001394827.1:p.Glu1423Lys
  • NP_001394828.1:p.Glu1423Lys
  • NP_001394829.1:p.Glu1423Lys
  • NP_001394831.1:p.Glu1423Lys
  • NP_001394833.1:p.Glu1423Lys
  • NP_001394835.1:p.Glu1423Lys
  • NP_001394836.1:p.Glu1423Lys
  • NP_001394837.1:p.Glu1423Lys
  • NP_001394838.1:p.Glu1423Lys
  • NP_001394839.1:p.Glu1423Lys
  • NP_001394844.1:p.Glu1422Lys
  • NP_001394845.1:p.Glu1422Lys
  • NP_001394846.1:p.Glu1422Lys
  • NP_001394847.1:p.Glu1422Lys
  • NP_001394848.1:p.Glu1453Lys
  • NP_001394849.1:p.Glu1406Lys
  • NP_001394850.1:p.Glu1406Lys
  • NP_001394851.1:p.Glu1406Lys
  • NP_001394852.1:p.Glu1406Lys
  • NP_001394853.1:p.Glu1406Lys
  • NP_001394854.1:p.Glu1406Lys
  • NP_001394855.1:p.Glu1406Lys
  • NP_001394856.1:p.Glu1405Lys
  • NP_001394857.1:p.Glu1405Lys
  • NP_001394858.1:p.Glu1405Lys
  • NP_001394859.1:p.Glu1405Lys
  • NP_001394860.1:p.Glu1405Lys
  • NP_001394861.1:p.Glu1405Lys
  • NP_001394862.1:p.Glu1405Lys
  • NP_001394863.1:p.Glu1404Lys
  • NP_001394864.1:p.Glu1404Lys
  • NP_001394865.1:p.Glu1404Lys
  • NP_001394866.1:p.Glu1453Lys
  • NP_001394867.1:p.Glu1453Lys
  • NP_001394868.1:p.Glu1452Lys
  • NP_001394869.1:p.Glu1452Lys
  • NP_001394870.1:p.Glu1451Lys
  • NP_001394871.1:p.Glu1447Lys
  • NP_001394872.1:p.Glu1446Lys
  • NP_001394873.1:p.Glu1446Lys
  • NP_001394874.1:p.Glu1446Lys
  • NP_001394875.1:p.Glu1383Lys
  • NP_001394876.1:p.Glu1383Lys
  • NP_001394877.1:p.Glu1383Lys
  • NP_001394878.1:p.Glu1383Lys
  • NP_001394879.1:p.Glu1382Lys
  • NP_001394880.1:p.Glu1382Lys
  • NP_001394881.1:p.Glu1382Lys
  • NP_001394882.1:p.Glu1382Lys
  • NP_001394883.1:p.Glu1382Lys
  • NP_001394884.1:p.Glu1382Lys
  • NP_001394885.1:p.Glu1381Lys
  • NP_001394886.1:p.Glu1381Lys
  • NP_001394887.1:p.Glu1381Lys
  • NP_001394888.1:p.Glu1367Lys
  • NP_001394889.1:p.Glu1366Lys
  • NP_001394891.1:p.Glu1366Lys
  • NP_001394892.1:p.Glu1365Lys
  • NP_001394894.1:p.Glu1325Lys
  • NP_001394895.1:p.Glu1198Lys
  • NP_001394896.1:p.Glu1197Lys
  • NP_001394897.1:p.Glu626Lys
  • NP_001394898.1:p.Glu625Lys
  • NP_001394899.1:p.Glu413Lys
  • NP_001394900.1:p.Glu413Lys
  • NP_001394901.1:p.Glu412Lys
  • NP_001394902.1:p.Glu391Lys
  • NP_001394903.1:p.Glu391Lys
  • NP_001394904.1:p.Glu391Lys
  • NP_001394905.1:p.Glu391Lys
  • NP_001394906.1:p.Glu391Lys
  • NP_001394907.1:p.Glu391Lys
  • NP_001394908.1:p.Glu390Lys
  • NP_001394909.1:p.Glu390Lys
  • NP_001394910.1:p.Glu390Lys
  • NP_001394911.1:p.Glu390Lys
  • NP_001394912.1:p.Glu390Lys
  • NP_001394913.1:p.Glu390Lys
  • NP_001394914.1:p.Glu390Lys
  • NP_001394915.1:p.Glu390Lys
  • NP_001394919.1:p.Glu390Lys
  • NP_001394920.1:p.Glu390Lys
  • NP_001394921.1:p.Glu390Lys
  • NP_001394922.1:p.Glu390Lys
  • NP_001395321.1:p.Glu389Lys
  • NP_001395325.1:p.Glu389Lys
  • NP_001395326.1:p.Glu389Lys
  • NP_001395327.1:p.Glu389Lys
  • NP_001395328.1:p.Glu389Lys
  • NP_001395329.1:p.Glu389Lys
  • NP_001395330.1:p.Glu389Lys
  • NP_001395331.1:p.Glu389Lys
  • NP_001395332.1:p.Glu389Lys
  • NP_001395333.1:p.Glu389Lys
  • NP_001395335.1:p.Glu388Lys
  • NP_001395336.1:p.Glu388Lys
  • NP_001395337.1:p.Glu388Lys
  • NP_001395338.1:p.Glu387Lys
  • NP_001395339.1:p.Glu366Lys
  • NP_001395340.1:p.Glu365Lys
  • NP_001395341.1:p.Glu364Lys
  • NP_001395342.1:p.Glu364Lys
  • NP_001395343.1:p.Glu364Lys
  • NP_001395344.1:p.Glu364Lys
  • NP_001395345.1:p.Glu364Lys
  • NP_001395347.1:p.Glu352Lys
  • NP_001395348.1:p.Glu352Lys
  • NP_001395349.1:p.Glu352Lys
  • NP_001395350.1:p.Glu351Lys
  • NP_001395351.1:p.Glu351Lys
  • NP_001395352.1:p.Glu351Lys
  • NP_001395353.1:p.Glu351Lys
  • NP_001395354.1:p.Glu350Lys
  • NP_001395355.1:p.Glu350Lys
  • NP_001395356.1:p.Glu350Lys
  • NP_001395357.1:p.Glu350Lys
  • NP_001395358.1:p.Glu350Lys
  • NP_001395359.1:p.Glu350Lys
  • NP_001395360.1:p.Glu350Lys
  • NP_001395361.1:p.Glu349Lys
  • NP_001395362.1:p.Glu349Lys
  • NP_001395363.1:p.Glu349Lys
  • NP_001395364.1:p.Glu349Lys
  • NP_001395365.1:p.Glu349Lys
  • NP_001395366.1:p.Glu349Lys
  • NP_001395367.1:p.Glu349Lys
  • NP_001395368.1:p.Glu349Lys
  • NP_001395369.1:p.Glu349Lys
  • NP_001395370.1:p.Glu349Lys
  • NP_001395371.1:p.Glu349Lys
  • NP_001395372.1:p.Glu349Lys
  • NP_001395373.1:p.Glu349Lys
  • NP_001395374.1:p.Glu348Lys
  • NP_001395375.1:p.Glu348Lys
  • NP_001395376.1:p.Glu348Lys
  • NP_001395377.1:p.Glu348Lys
  • NP_001395379.1:p.Glu348Lys
  • NP_001395380.1:p.Glu346Lys
  • NP_001395381.1:p.Glu344Lys
  • NP_001395382.1:p.Glu344Lys
  • NP_001395383.1:p.Glu344Lys
  • NP_001395384.1:p.Glu344Lys
  • NP_001395385.1:p.Glu344Lys
  • NP_001395386.1:p.Glu344Lys
  • NP_001395387.1:p.Glu343Lys
  • NP_001395388.1:p.Glu343Lys
  • NP_001395389.1:p.Glu343Lys
  • NP_001395390.1:p.Glu343Lys
  • NP_001395391.1:p.Glu343Lys
  • NP_001395392.1:p.Glu343Lys
  • NP_001395393.1:p.Glu343Lys
  • NP_001395394.1:p.Glu343Lys
  • NP_001395395.1:p.Glu343Lys
  • NP_001395396.1:p.Glu343Lys
  • NP_001395397.1:p.Glu342Lys
  • NP_001395398.1:p.Glu342Lys
  • NP_001395399.1:p.Glu342Lys
  • NP_001395401.1:p.Glu390Lys
  • NP_001395402.1:p.Glu389Lys
  • NP_001395403.1:p.Glu324Lys
  • NP_001395404.1:p.Glu323Lys
  • NP_001395405.1:p.Glu323Lys
  • NP_001395407.1:p.Glu321Lys
  • NP_001395408.1:p.Glu321Lys
  • NP_001395409.1:p.Glu321Lys
  • NP_001395410.1:p.Glu320Lys
  • NP_001395411.1:p.Glu320Lys
  • NP_001395412.1:p.Glu320Lys
  • NP_001395413.1:p.Glu320Lys
  • NP_001395414.1:p.Glu320Lys
  • NP_001395418.1:p.Glu320Lys
  • NP_001395419.1:p.Glu320Lys
  • NP_001395420.1:p.Glu320Lys
  • NP_001395421.1:p.Glu319Lys
  • NP_001395422.1:p.Glu319Lys
  • NP_001395423.1:p.Glu311Lys
  • NP_001395424.1:p.Glu309Lys
  • NP_001395425.1:p.Glu303Lys
  • NP_001395426.1:p.Glu303Lys
  • NP_001395427.1:p.Glu303Lys
  • NP_001395428.1:p.Glu303Lys
  • NP_001395429.1:p.Glu303Lys
  • NP_001395430.1:p.Glu303Lys
  • NP_001395431.1:p.Glu302Lys
  • NP_001395432.1:p.Glu302Lys
  • NP_001395433.1:p.Glu302Lys
  • NP_001395434.1:p.Glu301Lys
  • NP_001395435.1:p.Glu282Lys
  • NP_001395436.1:p.Glu281Lys
  • NP_001395437.1:p.Glu278Lys
  • NP_001395438.1:p.Glu277Lys
  • NP_001395439.1:p.Glu264Lys
  • NP_001395440.1:p.Glu263Lys
  • NP_001395441.1:p.Glu223Lys
  • NP_009225.1:p.Glu1494Lys
  • NP_009225.1:p.Glu1494Lys
  • NP_009228.2:p.Glu1447Lys
  • NP_009229.2:p.Glu390Lys
  • NP_009229.2:p.Glu390Lys
  • NP_009230.2:p.Glu390Lys
  • NP_009231.2:p.Glu1515Lys
  • NP_009235.2:p.Glu390Lys
  • LRG_292t1:c.4480G>A
  • LRG_292:g.141492G>A
  • LRG_292p1:p.Glu1494Lys
  • NC_000017.10:g.41228509C>T
  • NM_007294.3:c.4480G>A
  • NM_007298.3:c.1168G>A
  • NR_027676.2:n.4657G>A
  • U14680.1:n.4599G>A
Protein change:
E1197K
Links:
dbSNP: rs80357148
NCBI 1000 Genomes Browser:
rs80357148
Molecular consequence:
  • NM_001407571.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4402G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4402G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4402G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4279G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4273G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4273G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4099G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3592G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3589G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1873G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1159G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4657G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699151Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 6, 2017) 		germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV000887696Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jun 8, 2018) 		germlineclinical testing

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

SCV001818032GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699151.1

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

Description

Variant summary: The BRCA1 c.4480G>A (p.Glu1494Lys) variant involves the alteration of a non-conserved nucleotide and is outside of some commonly known BRCA1 domains (RING, S-R and BRCT) (InterPro). 4/4 in silico tools predict a benign outcome for this variant. This variant was found in 1/121368 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In literature, this variant has been reported in one HBOC patient without strong evidence for pathogenicity (Judkins _2005/BIC). One clinical diagnostic laboratory and a reputable database have classified this variant as uncertain significance. Taken together, this variant is classified as Variant of Uncertain Significance.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887696.2

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

From GeneDx, SCV001818032.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate approximately 80% transcription activity when compared to wild-type (Woods et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Observed in at least one individual referred for BRCA1/2 genetic testing (Judkins et al., 2005); Also known as 4599G>A; This variant is associated with the following publications: (PMID: 21520333, 10923033, 29884841, 15343273, 22737296, 16267036, 28781887, 32377563)

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

Last Updated: Aug 11, 2024