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NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 24, 2024
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:
RCV000566435.6

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)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000665802Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 24, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV004360178Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 21, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Hart SN, Hoskin T, Shimelis H, Moore RM, Feng B, Thomas A, Lindor NM, Polley EC, Goldgar DE, Iversen E, Monteiro ANA, Suman VJ, Couch FJ.

Genet Med. 2019 Jan;21(1):71-80. doi: 10.1038/s41436-018-0018-4. Epub 2018 Jun 8.

PubMed [citation]
PMID:
29884841
PMCID:
PMC6287763

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000665802.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.E1494K variant (also known as c.4480G>A), located in coding exon 12 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4480. The glutamic acid at codon 1494 is replaced by lysine, an amino acid with similar properties. This alteration had near wildtype transcription activation activity, however, this alteration does not lie in the BRCA1 transactivation or coiled-coil domains which casts doubt on the clinical interpretation of these data (Woods NT et al. NPJ Genom Med, 2016 Mar;1:). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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

From Color Diagnostics, LLC DBA Color Health, SCV004360178.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This missense variant replaces glutamic acid with lysine at codon 1494 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant does not impact BRCA1 function in a transcription activation assay (PMID: 28781887). This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has been identified in 2/282604 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024