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NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 30, 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:
RCV000162878.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)]

NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)

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.4484G>A (p.Arg1495Lys)
HGVS:
  • NC_000017.11:g.43076488C>T
  • NG_005905.2:g.141496G>A
  • NM_001407571.1:c.4271G>A
  • NM_001407581.1:c.4550G>A
  • NM_001407582.1:c.4550G>A
  • NM_001407583.1:c.4547G>A
  • NM_001407585.1:c.4547G>A
  • NM_001407587.1:c.4547G>A
  • NM_001407590.1:c.4544G>A
  • NM_001407591.1:c.4544G>A
  • NM_001407593.1:c.4484G>A
  • NM_001407594.1:c.4484G>A
  • NM_001407596.1:c.4484G>A
  • NM_001407597.1:c.4484G>A
  • NM_001407598.1:c.4484G>A
  • NM_001407602.1:c.4484G>A
  • NM_001407603.1:c.4484G>A
  • NM_001407605.1:c.4484G>A
  • NM_001407610.1:c.4481G>A
  • NM_001407611.1:c.4481G>A
  • NM_001407612.1:c.4481G>A
  • NM_001407613.1:c.4481G>A
  • NM_001407614.1:c.4481G>A
  • NM_001407615.1:c.4481G>A
  • NM_001407616.1:c.4481G>A
  • NM_001407617.1:c.4481G>A
  • NM_001407618.1:c.4481G>A
  • NM_001407619.1:c.4481G>A
  • NM_001407620.1:c.4481G>A
  • NM_001407621.1:c.4481G>A
  • NM_001407622.1:c.4481G>A
  • NM_001407623.1:c.4481G>A
  • NM_001407624.1:c.4481G>A
  • NM_001407625.1:c.4481G>A
  • NM_001407626.1:c.4481G>A
  • NM_001407627.1:c.4478G>A
  • NM_001407628.1:c.4478G>A
  • NM_001407629.1:c.4478G>A
  • NM_001407630.1:c.4478G>A
  • NM_001407631.1:c.4478G>A
  • NM_001407632.1:c.4478G>A
  • NM_001407633.1:c.4478G>A
  • NM_001407634.1:c.4478G>A
  • NM_001407635.1:c.4478G>A
  • NM_001407636.1:c.4478G>A
  • NM_001407637.1:c.4478G>A
  • NM_001407638.1:c.4478G>A
  • NM_001407639.1:c.4478G>A
  • NM_001407640.1:c.4478G>A
  • NM_001407641.1:c.4478G>A
  • NM_001407642.1:c.4478G>A
  • NM_001407644.1:c.4475G>A
  • NM_001407645.1:c.4475G>A
  • NM_001407646.1:c.4472G>A
  • NM_001407647.1:c.4469G>A
  • NM_001407648.1:c.4427G>A
  • NM_001407649.1:c.4424G>A
  • NM_001407652.1:c.4484G>A
  • NM_001407653.1:c.4406G>A
  • NM_001407654.1:c.4406G>A
  • NM_001407655.1:c.4406G>A
  • NM_001407656.1:c.4403G>A
  • NM_001407657.1:c.4403G>A
  • NM_001407658.1:c.4403G>A
  • NM_001407659.1:c.4400G>A
  • NM_001407660.1:c.4400G>A
  • NM_001407661.1:c.4400G>A
  • NM_001407662.1:c.4400G>A
  • NM_001407663.1:c.4400G>A
  • NM_001407664.1:c.4361G>A
  • NM_001407665.1:c.4361G>A
  • NM_001407666.1:c.4361G>A
  • NM_001407667.1:c.4361G>A
  • NM_001407668.1:c.4361G>A
  • NM_001407669.1:c.4361G>A
  • NM_001407670.1:c.4358G>A
  • NM_001407671.1:c.4358G>A
  • NM_001407672.1:c.4358G>A
  • NM_001407673.1:c.4358G>A
  • NM_001407674.1:c.4358G>A
  • NM_001407675.1:c.4358G>A
  • NM_001407676.1:c.4358G>A
  • NM_001407677.1:c.4358G>A
  • NM_001407678.1:c.4358G>A
  • NM_001407679.1:c.4358G>A
  • NM_001407680.1:c.4358G>A
  • NM_001407681.1:c.4355G>A
  • NM_001407682.1:c.4355G>A
  • NM_001407683.1:c.4355G>A
  • NM_001407684.1:c.4484G>A
  • NM_001407685.1:c.4355G>A
  • NM_001407686.1:c.4355G>A
  • NM_001407687.1:c.4355G>A
  • NM_001407688.1:c.4355G>A
  • NM_001407689.1:c.4355G>A
  • NM_001407690.1:c.4352G>A
  • NM_001407691.1:c.4352G>A
  • NM_001407692.1:c.4343G>A
  • NM_001407694.1:c.4343G>A
  • NM_001407695.1:c.4343G>A
  • NM_001407696.1:c.4343G>A
  • NM_001407697.1:c.4343G>A
  • NM_001407698.1:c.4343G>A
  • NM_001407724.1:c.4343G>A
  • NM_001407725.1:c.4343G>A
  • NM_001407726.1:c.4343G>A
  • NM_001407727.1:c.4343G>A
  • NM_001407728.1:c.4343G>A
  • NM_001407729.1:c.4343G>A
  • NM_001407730.1:c.4343G>A
  • NM_001407731.1:c.4343G>A
  • NM_001407732.1:c.4340G>A
  • NM_001407733.1:c.4340G>A
  • NM_001407734.1:c.4340G>A
  • NM_001407735.1:c.4340G>A
  • NM_001407736.1:c.4340G>A
  • NM_001407737.1:c.4340G>A
  • NM_001407738.1:c.4340G>A
  • NM_001407739.1:c.4340G>A
  • NM_001407740.1:c.4340G>A
  • NM_001407741.1:c.4340G>A
  • NM_001407742.1:c.4340G>A
  • NM_001407743.1:c.4340G>A
  • NM_001407744.1:c.4340G>A
  • NM_001407745.1:c.4340G>A
  • NM_001407746.1:c.4340G>A
  • NM_001407747.1:c.4340G>A
  • NM_001407748.1:c.4340G>A
  • NM_001407749.1:c.4340G>A
  • NM_001407750.1:c.4340G>A
  • NM_001407751.1:c.4340G>A
  • NM_001407752.1:c.4340G>A
  • NM_001407838.1:c.4337G>A
  • NM_001407839.1:c.4337G>A
  • NM_001407841.1:c.4337G>A
  • NM_001407842.1:c.4337G>A
  • NM_001407843.1:c.4337G>A
  • NM_001407844.1:c.4337G>A
  • NM_001407845.1:c.4337G>A
  • NM_001407846.1:c.4337G>A
  • NM_001407847.1:c.4337G>A
  • NM_001407848.1:c.4337G>A
  • NM_001407849.1:c.4337G>A
  • NM_001407850.1:c.4337G>A
  • NM_001407851.1:c.4337G>A
  • NM_001407852.1:c.4337G>A
  • NM_001407853.1:c.4337G>A
  • NM_001407854.1:c.4484G>A
  • NM_001407858.1:c.4481G>A
  • NM_001407859.1:c.4481G>A
  • NM_001407860.1:c.4481G>A
  • NM_001407861.1:c.4478G>A
  • NM_001407862.1:c.4283G>A
  • NM_001407863.1:c.4358G>A
  • NM_001407874.1:c.4277G>A
  • NM_001407875.1:c.4277G>A
  • NM_001407879.1:c.4274G>A
  • NM_001407881.1:c.4274G>A
  • NM_001407882.1:c.4274G>A
  • NM_001407884.1:c.4274G>A
  • NM_001407885.1:c.4274G>A
  • NM_001407886.1:c.4274G>A
  • NM_001407887.1:c.4274G>A
  • NM_001407889.1:c.4274G>A
  • NM_001407894.1:c.4271G>A
  • NM_001407895.1:c.4271G>A
  • NM_001407896.1:c.4271G>A
  • NM_001407897.1:c.4271G>A
  • NM_001407898.1:c.4271G>A
  • NM_001407899.1:c.4271G>A
  • NM_001407900.1:c.4271G>A
  • NM_001407902.1:c.4271G>A
  • NM_001407904.1:c.4271G>A
  • NM_001407906.1:c.4271G>A
  • NM_001407907.1:c.4271G>A
  • NM_001407908.1:c.4271G>A
  • NM_001407909.1:c.4271G>A
  • NM_001407910.1:c.4271G>A
  • NM_001407915.1:c.4268G>A
  • NM_001407916.1:c.4268G>A
  • NM_001407917.1:c.4268G>A
  • NM_001407918.1:c.4268G>A
  • NM_001407919.1:c.4361G>A
  • NM_001407920.1:c.4220G>A
  • NM_001407921.1:c.4220G>A
  • NM_001407922.1:c.4220G>A
  • NM_001407923.1:c.4220G>A
  • NM_001407924.1:c.4220G>A
  • NM_001407925.1:c.4220G>A
  • NM_001407926.1:c.4220G>A
  • NM_001407927.1:c.4217G>A
  • NM_001407928.1:c.4217G>A
  • NM_001407929.1:c.4217G>A
  • NM_001407930.1:c.4217G>A
  • NM_001407931.1:c.4217G>A
  • NM_001407932.1:c.4217G>A
  • NM_001407933.1:c.4217G>A
  • NM_001407934.1:c.4214G>A
  • NM_001407935.1:c.4214G>A
  • NM_001407936.1:c.4214G>A
  • NM_001407937.1:c.4361G>A
  • NM_001407938.1:c.4361G>A
  • NM_001407939.1:c.4358G>A
  • NM_001407940.1:c.4358G>A
  • NM_001407941.1:c.4355G>A
  • NM_001407942.1:c.4343G>A
  • NM_001407943.1:c.4340G>A
  • NM_001407944.1:c.4340G>A
  • NM_001407945.1:c.4340G>A
  • NM_001407946.1:c.4151G>A
  • NM_001407947.1:c.4151G>A
  • NM_001407948.1:c.4151G>A
  • NM_001407949.1:c.4151G>A
  • NM_001407950.1:c.4148G>A
  • NM_001407951.1:c.4148G>A
  • NM_001407952.1:c.4148G>A
  • NM_001407953.1:c.4148G>A
  • NM_001407954.1:c.4148G>A
  • NM_001407955.1:c.4148G>A
  • NM_001407956.1:c.4145G>A
  • NM_001407957.1:c.4145G>A
  • NM_001407958.1:c.4145G>A
  • NM_001407959.1:c.4103G>A
  • NM_001407960.1:c.4100G>A
  • NM_001407962.1:c.4100G>A
  • NM_001407963.1:c.4097G>A
  • NM_001407965.1:c.3977G>A
  • NM_001407966.1:c.3596G>A
  • NM_001407967.1:c.3593G>A
  • NM_001407968.1:c.1880G>A
  • NM_001407969.1:c.1877G>A
  • NM_001407970.1:c.1241G>A
  • NM_001407971.1:c.1241G>A
  • NM_001407972.1:c.1238G>A
  • NM_001407973.1:c.1175G>A
  • NM_001407974.1:c.1175G>A
  • NM_001407975.1:c.1175G>A
  • NM_001407976.1:c.1175G>A
  • NM_001407977.1:c.1175G>A
  • NM_001407978.1:c.1175G>A
  • NM_001407979.1:c.1172G>A
  • NM_001407980.1:c.1172G>A
  • NM_001407981.1:c.1172G>A
  • NM_001407982.1:c.1172G>A
  • NM_001407983.1:c.1172G>A
  • NM_001407984.1:c.1172G>A
  • NM_001407985.1:c.1172G>A
  • NM_001407986.1:c.1172G>A
  • NM_001407990.1:c.1172G>A
  • NM_001407991.1:c.1172G>A
  • NM_001407992.1:c.1172G>A
  • NM_001407993.1:c.1172G>A
  • NM_001408392.1:c.1169G>A
  • NM_001408396.1:c.1169G>A
  • NM_001408397.1:c.1169G>A
  • NM_001408398.1:c.1169G>A
  • NM_001408399.1:c.1169G>A
  • NM_001408400.1:c.1169G>A
  • NM_001408401.1:c.1169G>A
  • NM_001408402.1:c.1169G>A
  • NM_001408403.1:c.1169G>A
  • NM_001408404.1:c.1169G>A
  • NM_001408406.1:c.1166G>A
  • NM_001408407.1:c.1166G>A
  • NM_001408408.1:c.1166G>A
  • NM_001408409.1:c.1163G>A
  • NM_001408410.1:c.1100G>A
  • NM_001408411.1:c.1097G>A
  • NM_001408412.1:c.1094G>A
  • NM_001408413.1:c.1094G>A
  • NM_001408414.1:c.1094G>A
  • NM_001408415.1:c.1094G>A
  • NM_001408416.1:c.1094G>A
  • NM_001408418.1:c.1058G>A
  • NM_001408419.1:c.1058G>A
  • NM_001408420.1:c.1058G>A
  • NM_001408421.1:c.1055G>A
  • NM_001408422.1:c.1055G>A
  • NM_001408423.1:c.1055G>A
  • NM_001408424.1:c.1055G>A
  • NM_001408425.1:c.1052G>A
  • NM_001408426.1:c.1052G>A
  • NM_001408427.1:c.1052G>A
  • NM_001408428.1:c.1052G>A
  • NM_001408429.1:c.1052G>A
  • NM_001408430.1:c.1052G>A
  • NM_001408431.1:c.1052G>A
  • NM_001408432.1:c.1049G>A
  • NM_001408433.1:c.1049G>A
  • NM_001408434.1:c.1049G>A
  • NM_001408435.1:c.1049G>A
  • NM_001408436.1:c.1049G>A
  • NM_001408437.1:c.1049G>A
  • NM_001408438.1:c.1049G>A
  • NM_001408439.1:c.1049G>A
  • NM_001408440.1:c.1049G>A
  • NM_001408441.1:c.1049G>A
  • NM_001408442.1:c.1049G>A
  • NM_001408443.1:c.1049G>A
  • NM_001408444.1:c.1049G>A
  • NM_001408445.1:c.1046G>A
  • NM_001408446.1:c.1046G>A
  • NM_001408447.1:c.1046G>A
  • NM_001408448.1:c.1046G>A
  • NM_001408450.1:c.1046G>A
  • NM_001408451.1:c.1040G>A
  • NM_001408452.1:c.1034G>A
  • NM_001408453.1:c.1034G>A
  • NM_001408454.1:c.1034G>A
  • NM_001408455.1:c.1034G>A
  • NM_001408456.1:c.1034G>A
  • NM_001408457.1:c.1034G>A
  • NM_001408458.1:c.1031G>A
  • NM_001408459.1:c.1031G>A
  • NM_001408460.1:c.1031G>A
  • NM_001408461.1:c.1031G>A
  • NM_001408462.1:c.1031G>A
  • NM_001408463.1:c.1031G>A
  • NM_001408464.1:c.1031G>A
  • NM_001408465.1:c.1031G>A
  • NM_001408466.1:c.1031G>A
  • NM_001408467.1:c.1031G>A
  • NM_001408468.1:c.1028G>A
  • NM_001408469.1:c.1028G>A
  • NM_001408470.1:c.1028G>A
  • NM_001408472.1:c.1172G>A
  • NM_001408473.1:c.1169G>A
  • NM_001408474.1:c.974G>A
  • NM_001408475.1:c.971G>A
  • NM_001408476.1:c.971G>A
  • NM_001408478.1:c.965G>A
  • NM_001408479.1:c.965G>A
  • NM_001408480.1:c.965G>A
  • NM_001408481.1:c.962G>A
  • NM_001408482.1:c.962G>A
  • NM_001408483.1:c.962G>A
  • NM_001408484.1:c.962G>A
  • NM_001408485.1:c.962G>A
  • NM_001408489.1:c.962G>A
  • NM_001408490.1:c.962G>A
  • NM_001408491.1:c.962G>A
  • NM_001408492.1:c.959G>A
  • NM_001408493.1:c.959G>A
  • NM_001408494.1:c.935G>A
  • NM_001408495.1:c.929G>A
  • NM_001408496.1:c.911G>A
  • NM_001408497.1:c.911G>A
  • NM_001408498.1:c.911G>A
  • NM_001408499.1:c.911G>A
  • NM_001408500.1:c.911G>A
  • NM_001408501.1:c.911G>A
  • NM_001408502.1:c.908G>A
  • NM_001408503.1:c.908G>A
  • NM_001408504.1:c.908G>A
  • NM_001408505.1:c.905G>A
  • NM_001408506.1:c.848G>A
  • NM_001408507.1:c.845G>A
  • NM_001408508.1:c.836G>A
  • NM_001408509.1:c.833G>A
  • NM_001408510.1:c.794G>A
  • NM_001408511.1:c.791G>A
  • NM_001408512.1:c.671G>A
  • NM_007294.4:c.4484G>AMANE SELECT
  • NM_007297.4:c.4343G>A
  • NM_007298.4:c.1172G>A
  • NM_007299.4:c.1172G>A
  • NM_007300.4:c.4547G>A
  • NM_007304.2:c.1172G>A
  • NP_001394500.1:p.Arg1424Lys
  • NP_001394510.1:p.Arg1517Lys
  • NP_001394511.1:p.Arg1517Lys
  • NP_001394512.1:p.Arg1516Lys
  • NP_001394514.1:p.Arg1516Lys
  • NP_001394516.1:p.Arg1516Lys
  • NP_001394519.1:p.Arg1515Lys
  • NP_001394520.1:p.Arg1515Lys
  • NP_001394522.1:p.Arg1495Lys
  • NP_001394523.1:p.Arg1495Lys
  • NP_001394525.1:p.Arg1495Lys
  • NP_001394526.1:p.Arg1495Lys
  • NP_001394527.1:p.Arg1495Lys
  • NP_001394531.1:p.Arg1495Lys
  • NP_001394532.1:p.Arg1495Lys
  • NP_001394534.1:p.Arg1495Lys
  • NP_001394539.1:p.Arg1494Lys
  • NP_001394540.1:p.Arg1494Lys
  • NP_001394541.1:p.Arg1494Lys
  • NP_001394542.1:p.Arg1494Lys
  • NP_001394543.1:p.Arg1494Lys
  • NP_001394544.1:p.Arg1494Lys
  • NP_001394545.1:p.Arg1494Lys
  • NP_001394546.1:p.Arg1494Lys
  • NP_001394547.1:p.Arg1494Lys
  • NP_001394548.1:p.Arg1494Lys
  • NP_001394549.1:p.Arg1494Lys
  • NP_001394550.1:p.Arg1494Lys
  • NP_001394551.1:p.Arg1494Lys
  • NP_001394552.1:p.Arg1494Lys
  • NP_001394553.1:p.Arg1494Lys
  • NP_001394554.1:p.Arg1494Lys
  • NP_001394555.1:p.Arg1494Lys
  • NP_001394556.1:p.Arg1493Lys
  • NP_001394557.1:p.Arg1493Lys
  • NP_001394558.1:p.Arg1493Lys
  • NP_001394559.1:p.Arg1493Lys
  • NP_001394560.1:p.Arg1493Lys
  • NP_001394561.1:p.Arg1493Lys
  • NP_001394562.1:p.Arg1493Lys
  • NP_001394563.1:p.Arg1493Lys
  • NP_001394564.1:p.Arg1493Lys
  • NP_001394565.1:p.Arg1493Lys
  • NP_001394566.1:p.Arg1493Lys
  • NP_001394567.1:p.Arg1493Lys
  • NP_001394568.1:p.Arg1493Lys
  • NP_001394569.1:p.Arg1493Lys
  • NP_001394570.1:p.Arg1493Lys
  • NP_001394571.1:p.Arg1493Lys
  • NP_001394573.1:p.Arg1492Lys
  • NP_001394574.1:p.Arg1492Lys
  • NP_001394575.1:p.Arg1491Lys
  • NP_001394576.1:p.Arg1490Lys
  • NP_001394577.1:p.Arg1476Lys
  • NP_001394578.1:p.Arg1475Lys
  • NP_001394581.1:p.Arg1495Lys
  • NP_001394582.1:p.Arg1469Lys
  • NP_001394583.1:p.Arg1469Lys
  • NP_001394584.1:p.Arg1469Lys
  • NP_001394585.1:p.Arg1468Lys
  • NP_001394586.1:p.Arg1468Lys
  • NP_001394587.1:p.Arg1468Lys
  • NP_001394588.1:p.Arg1467Lys
  • NP_001394589.1:p.Arg1467Lys
  • NP_001394590.1:p.Arg1467Lys
  • NP_001394591.1:p.Arg1467Lys
  • NP_001394592.1:p.Arg1467Lys
  • NP_001394593.1:p.Arg1454Lys
  • NP_001394594.1:p.Arg1454Lys
  • NP_001394595.1:p.Arg1454Lys
  • NP_001394596.1:p.Arg1454Lys
  • NP_001394597.1:p.Arg1454Lys
  • NP_001394598.1:p.Arg1454Lys
  • NP_001394599.1:p.Arg1453Lys
  • NP_001394600.1:p.Arg1453Lys
  • NP_001394601.1:p.Arg1453Lys
  • NP_001394602.1:p.Arg1453Lys
  • NP_001394603.1:p.Arg1453Lys
  • NP_001394604.1:p.Arg1453Lys
  • NP_001394605.1:p.Arg1453Lys
  • NP_001394606.1:p.Arg1453Lys
  • NP_001394607.1:p.Arg1453Lys
  • NP_001394608.1:p.Arg1453Lys
  • NP_001394609.1:p.Arg1453Lys
  • NP_001394610.1:p.Arg1452Lys
  • NP_001394611.1:p.Arg1452Lys
  • NP_001394612.1:p.Arg1452Lys
  • NP_001394613.1:p.Arg1495Lys
  • NP_001394614.1:p.Arg1452Lys
  • NP_001394615.1:p.Arg1452Lys
  • NP_001394616.1:p.Arg1452Lys
  • NP_001394617.1:p.Arg1452Lys
  • NP_001394618.1:p.Arg1452Lys
  • NP_001394619.1:p.Arg1451Lys
  • NP_001394620.1:p.Arg1451Lys
  • NP_001394621.1:p.Arg1448Lys
  • NP_001394623.1:p.Arg1448Lys
  • NP_001394624.1:p.Arg1448Lys
  • NP_001394625.1:p.Arg1448Lys
  • NP_001394626.1:p.Arg1448Lys
  • NP_001394627.1:p.Arg1448Lys
  • NP_001394653.1:p.Arg1448Lys
  • NP_001394654.1:p.Arg1448Lys
  • NP_001394655.1:p.Arg1448Lys
  • NP_001394656.1:p.Arg1448Lys
  • NP_001394657.1:p.Arg1448Lys
  • NP_001394658.1:p.Arg1448Lys
  • NP_001394659.1:p.Arg1448Lys
  • NP_001394660.1:p.Arg1448Lys
  • NP_001394661.1:p.Arg1447Lys
  • NP_001394662.1:p.Arg1447Lys
  • NP_001394663.1:p.Arg1447Lys
  • NP_001394664.1:p.Arg1447Lys
  • NP_001394665.1:p.Arg1447Lys
  • NP_001394666.1:p.Arg1447Lys
  • NP_001394667.1:p.Arg1447Lys
  • NP_001394668.1:p.Arg1447Lys
  • NP_001394669.1:p.Arg1447Lys
  • NP_001394670.1:p.Arg1447Lys
  • NP_001394671.1:p.Arg1447Lys
  • NP_001394672.1:p.Arg1447Lys
  • NP_001394673.1:p.Arg1447Lys
  • NP_001394674.1:p.Arg1447Lys
  • NP_001394675.1:p.Arg1447Lys
  • NP_001394676.1:p.Arg1447Lys
  • NP_001394677.1:p.Arg1447Lys
  • NP_001394678.1:p.Arg1447Lys
  • NP_001394679.1:p.Arg1447Lys
  • NP_001394680.1:p.Arg1447Lys
  • NP_001394681.1:p.Arg1447Lys
  • NP_001394767.1:p.Arg1446Lys
  • NP_001394768.1:p.Arg1446Lys
  • NP_001394770.1:p.Arg1446Lys
  • NP_001394771.1:p.Arg1446Lys
  • NP_001394772.1:p.Arg1446Lys
  • NP_001394773.1:p.Arg1446Lys
  • NP_001394774.1:p.Arg1446Lys
  • NP_001394775.1:p.Arg1446Lys
  • NP_001394776.1:p.Arg1446Lys
  • NP_001394777.1:p.Arg1446Lys
  • NP_001394778.1:p.Arg1446Lys
  • NP_001394779.1:p.Arg1446Lys
  • NP_001394780.1:p.Arg1446Lys
  • NP_001394781.1:p.Arg1446Lys
  • NP_001394782.1:p.Arg1446Lys
  • NP_001394783.1:p.Arg1495Lys
  • NP_001394787.1:p.Arg1494Lys
  • NP_001394788.1:p.Arg1494Lys
  • NP_001394789.1:p.Arg1494Lys
  • NP_001394790.1:p.Arg1493Lys
  • NP_001394791.1:p.Arg1428Lys
  • NP_001394792.1:p.Arg1453Lys
  • NP_001394803.1:p.Arg1426Lys
  • NP_001394804.1:p.Arg1426Lys
  • NP_001394808.1:p.Arg1425Lys
  • NP_001394810.1:p.Arg1425Lys
  • NP_001394811.1:p.Arg1425Lys
  • NP_001394813.1:p.Arg1425Lys
  • NP_001394814.1:p.Arg1425Lys
  • NP_001394815.1:p.Arg1425Lys
  • NP_001394816.1:p.Arg1425Lys
  • NP_001394818.1:p.Arg1425Lys
  • NP_001394823.1:p.Arg1424Lys
  • NP_001394824.1:p.Arg1424Lys
  • NP_001394825.1:p.Arg1424Lys
  • NP_001394826.1:p.Arg1424Lys
  • NP_001394827.1:p.Arg1424Lys
  • NP_001394828.1:p.Arg1424Lys
  • NP_001394829.1:p.Arg1424Lys
  • NP_001394831.1:p.Arg1424Lys
  • NP_001394833.1:p.Arg1424Lys
  • NP_001394835.1:p.Arg1424Lys
  • NP_001394836.1:p.Arg1424Lys
  • NP_001394837.1:p.Arg1424Lys
  • NP_001394838.1:p.Arg1424Lys
  • NP_001394839.1:p.Arg1424Lys
  • NP_001394844.1:p.Arg1423Lys
  • NP_001394845.1:p.Arg1423Lys
  • NP_001394846.1:p.Arg1423Lys
  • NP_001394847.1:p.Arg1423Lys
  • NP_001394848.1:p.Arg1454Lys
  • NP_001394849.1:p.Arg1407Lys
  • NP_001394850.1:p.Arg1407Lys
  • NP_001394851.1:p.Arg1407Lys
  • NP_001394852.1:p.Arg1407Lys
  • NP_001394853.1:p.Arg1407Lys
  • NP_001394854.1:p.Arg1407Lys
  • NP_001394855.1:p.Arg1407Lys
  • NP_001394856.1:p.Arg1406Lys
  • NP_001394857.1:p.Arg1406Lys
  • NP_001394858.1:p.Arg1406Lys
  • NP_001394859.1:p.Arg1406Lys
  • NP_001394860.1:p.Arg1406Lys
  • NP_001394861.1:p.Arg1406Lys
  • NP_001394862.1:p.Arg1406Lys
  • NP_001394863.1:p.Arg1405Lys
  • NP_001394864.1:p.Arg1405Lys
  • NP_001394865.1:p.Arg1405Lys
  • NP_001394866.1:p.Arg1454Lys
  • NP_001394867.1:p.Arg1454Lys
  • NP_001394868.1:p.Arg1453Lys
  • NP_001394869.1:p.Arg1453Lys
  • NP_001394870.1:p.Arg1452Lys
  • NP_001394871.1:p.Arg1448Lys
  • NP_001394872.1:p.Arg1447Lys
  • NP_001394873.1:p.Arg1447Lys
  • NP_001394874.1:p.Arg1447Lys
  • NP_001394875.1:p.Arg1384Lys
  • NP_001394876.1:p.Arg1384Lys
  • NP_001394877.1:p.Arg1384Lys
  • NP_001394878.1:p.Arg1384Lys
  • NP_001394879.1:p.Arg1383Lys
  • NP_001394880.1:p.Arg1383Lys
  • NP_001394881.1:p.Arg1383Lys
  • NP_001394882.1:p.Arg1383Lys
  • NP_001394883.1:p.Arg1383Lys
  • NP_001394884.1:p.Arg1383Lys
  • NP_001394885.1:p.Arg1382Lys
  • NP_001394886.1:p.Arg1382Lys
  • NP_001394887.1:p.Arg1382Lys
  • NP_001394888.1:p.Arg1368Lys
  • NP_001394889.1:p.Arg1367Lys
  • NP_001394891.1:p.Arg1367Lys
  • NP_001394892.1:p.Arg1366Lys
  • NP_001394894.1:p.Arg1326Lys
  • NP_001394895.1:p.Arg1199Lys
  • NP_001394896.1:p.Arg1198Lys
  • NP_001394897.1:p.Arg627Lys
  • NP_001394898.1:p.Arg626Lys
  • NP_001394899.1:p.Arg414Lys
  • NP_001394900.1:p.Arg414Lys
  • NP_001394901.1:p.Arg413Lys
  • NP_001394902.1:p.Arg392Lys
  • NP_001394903.1:p.Arg392Lys
  • NP_001394904.1:p.Arg392Lys
  • NP_001394905.1:p.Arg392Lys
  • NP_001394906.1:p.Arg392Lys
  • NP_001394907.1:p.Arg392Lys
  • NP_001394908.1:p.Arg391Lys
  • NP_001394909.1:p.Arg391Lys
  • NP_001394910.1:p.Arg391Lys
  • NP_001394911.1:p.Arg391Lys
  • NP_001394912.1:p.Arg391Lys
  • NP_001394913.1:p.Arg391Lys
  • NP_001394914.1:p.Arg391Lys
  • NP_001394915.1:p.Arg391Lys
  • NP_001394919.1:p.Arg391Lys
  • NP_001394920.1:p.Arg391Lys
  • NP_001394921.1:p.Arg391Lys
  • NP_001394922.1:p.Arg391Lys
  • NP_001395321.1:p.Arg390Lys
  • NP_001395325.1:p.Arg390Lys
  • NP_001395326.1:p.Arg390Lys
  • NP_001395327.1:p.Arg390Lys
  • NP_001395328.1:p.Arg390Lys
  • NP_001395329.1:p.Arg390Lys
  • NP_001395330.1:p.Arg390Lys
  • NP_001395331.1:p.Arg390Lys
  • NP_001395332.1:p.Arg390Lys
  • NP_001395333.1:p.Arg390Lys
  • NP_001395335.1:p.Arg389Lys
  • NP_001395336.1:p.Arg389Lys
  • NP_001395337.1:p.Arg389Lys
  • NP_001395338.1:p.Arg388Lys
  • NP_001395339.1:p.Arg367Lys
  • NP_001395340.1:p.Arg366Lys
  • NP_001395341.1:p.Arg365Lys
  • NP_001395342.1:p.Arg365Lys
  • NP_001395343.1:p.Arg365Lys
  • NP_001395344.1:p.Arg365Lys
  • NP_001395345.1:p.Arg365Lys
  • NP_001395347.1:p.Arg353Lys
  • NP_001395348.1:p.Arg353Lys
  • NP_001395349.1:p.Arg353Lys
  • NP_001395350.1:p.Arg352Lys
  • NP_001395351.1:p.Arg352Lys
  • NP_001395352.1:p.Arg352Lys
  • NP_001395353.1:p.Arg352Lys
  • NP_001395354.1:p.Arg351Lys
  • NP_001395355.1:p.Arg351Lys
  • NP_001395356.1:p.Arg351Lys
  • NP_001395357.1:p.Arg351Lys
  • NP_001395358.1:p.Arg351Lys
  • NP_001395359.1:p.Arg351Lys
  • NP_001395360.1:p.Arg351Lys
  • NP_001395361.1:p.Arg350Lys
  • NP_001395362.1:p.Arg350Lys
  • NP_001395363.1:p.Arg350Lys
  • NP_001395364.1:p.Arg350Lys
  • NP_001395365.1:p.Arg350Lys
  • NP_001395366.1:p.Arg350Lys
  • NP_001395367.1:p.Arg350Lys
  • NP_001395368.1:p.Arg350Lys
  • NP_001395369.1:p.Arg350Lys
  • NP_001395370.1:p.Arg350Lys
  • NP_001395371.1:p.Arg350Lys
  • NP_001395372.1:p.Arg350Lys
  • NP_001395373.1:p.Arg350Lys
  • NP_001395374.1:p.Arg349Lys
  • NP_001395375.1:p.Arg349Lys
  • NP_001395376.1:p.Arg349Lys
  • NP_001395377.1:p.Arg349Lys
  • NP_001395379.1:p.Arg349Lys
  • NP_001395380.1:p.Arg347Lys
  • NP_001395381.1:p.Arg345Lys
  • NP_001395382.1:p.Arg345Lys
  • NP_001395383.1:p.Arg345Lys
  • NP_001395384.1:p.Arg345Lys
  • NP_001395385.1:p.Arg345Lys
  • NP_001395386.1:p.Arg345Lys
  • NP_001395387.1:p.Arg344Lys
  • NP_001395388.1:p.Arg344Lys
  • NP_001395389.1:p.Arg344Lys
  • NP_001395390.1:p.Arg344Lys
  • NP_001395391.1:p.Arg344Lys
  • NP_001395392.1:p.Arg344Lys
  • NP_001395393.1:p.Arg344Lys
  • NP_001395394.1:p.Arg344Lys
  • NP_001395395.1:p.Arg344Lys
  • NP_001395396.1:p.Arg344Lys
  • NP_001395397.1:p.Arg343Lys
  • NP_001395398.1:p.Arg343Lys
  • NP_001395399.1:p.Arg343Lys
  • NP_001395401.1:p.Arg391Lys
  • NP_001395402.1:p.Arg390Lys
  • NP_001395403.1:p.Arg325Lys
  • NP_001395404.1:p.Arg324Lys
  • NP_001395405.1:p.Arg324Lys
  • NP_001395407.1:p.Arg322Lys
  • NP_001395408.1:p.Arg322Lys
  • NP_001395409.1:p.Arg322Lys
  • NP_001395410.1:p.Arg321Lys
  • NP_001395411.1:p.Arg321Lys
  • NP_001395412.1:p.Arg321Lys
  • NP_001395413.1:p.Arg321Lys
  • NP_001395414.1:p.Arg321Lys
  • NP_001395418.1:p.Arg321Lys
  • NP_001395419.1:p.Arg321Lys
  • NP_001395420.1:p.Arg321Lys
  • NP_001395421.1:p.Arg320Lys
  • NP_001395422.1:p.Arg320Lys
  • NP_001395423.1:p.Arg312Lys
  • NP_001395424.1:p.Arg310Lys
  • NP_001395425.1:p.Arg304Lys
  • NP_001395426.1:p.Arg304Lys
  • NP_001395427.1:p.Arg304Lys
  • NP_001395428.1:p.Arg304Lys
  • NP_001395429.1:p.Arg304Lys
  • NP_001395430.1:p.Arg304Lys
  • NP_001395431.1:p.Arg303Lys
  • NP_001395432.1:p.Arg303Lys
  • NP_001395433.1:p.Arg303Lys
  • NP_001395434.1:p.Arg302Lys
  • NP_001395435.1:p.Arg283Lys
  • NP_001395436.1:p.Arg282Lys
  • NP_001395437.1:p.Arg279Lys
  • NP_001395438.1:p.Arg278Lys
  • NP_001395439.1:p.Arg265Lys
  • NP_001395440.1:p.Arg264Lys
  • NP_001395441.1:p.Arg224Lys
  • NP_009225.1:p.Arg1495Lys
  • NP_009225.1:p.Arg1495Lys
  • NP_009228.2:p.Arg1448Lys
  • NP_009229.2:p.Arg391Lys
  • NP_009229.2:p.Arg391Lys
  • NP_009230.2:p.Arg391Lys
  • NP_009231.2:p.Arg1516Lys
  • NP_009235.2:p.Arg391Lys
  • LRG_292t1:c.4484G>A
  • LRG_292:g.141496G>A
  • LRG_292p1:p.Arg1495Lys
  • NC_000017.10:g.41228505C>T
  • NM_007294.3:c.4484G>A
  • NM_007298.3:c.1172G>A
  • NR_027676.2:n.4661G>A
  • U14680.1:n.4603G>A
  • p.R1495K
Nucleotide change:
4603G>A
Protein change:
R1198K
Links:
dbSNP: rs80357389
NCBI 1000 Genomes Browser:
rs80357389
Molecular consequence:
  • NM_001407571.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4544G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4544G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4472G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4427G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4283G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4277G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4277G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4220G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4103G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4097G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3977G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3596G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1877G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1163G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.959G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.959G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.935G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.848G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.845G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.833G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.791G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.671G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4661G>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
SCV000213365Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 30, 2024) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000905202Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G.

J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18. Erratum in: J Clin Oncol. 2012 Nov 20;30(33):4180.

PubMed [citation]
PMID:
22711857
PMCID:
PMC3413277
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000213365.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The c.4484G>A pathogenic mutation (also known as p.R1495K), located in coding exon 12 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4484. The amino acid change results in arginine to lysine at codon 1495, an amino acid with highly similar properties. However, this change occurs in the last base pair of coding exon 12, which makes it likely to have some effect on normal mRNA splicing. RNA studies demonstrated that this mutation leads to skipping of coding exon 12, which results in a transcript subject to nonsense-mediated mRNA decay (Ambry internal data; Houdayer C et al. Hum Mutat. 2012 Aug;33(8):1228-38). Another alteration impacting the same donor/acceptor site (c.4484G>T) has been shown to have a similar impact on splicing (Ambry internal data; Yang Y et al. Hum. Mol. Genet. 2003 Sep;12:2121-31; Caux-Moncoutier V et al. Hum. Mutat. 2011 Mar;32:325-34; Houdayer C et al. Hum. Mutat. 2012 Aug;33:1228-38). This nucleotide position is highly conserved in available vertebrate species. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000905202.2

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

Description

This missense variant replaces arginine with lysine at codon 1495 of the BRCA1 protein and alters the conserved guanine nucleotide immediately adjacent to the intron 13 splice donor site. RNA studies have shown that this variant resulted in the out-of-frame skipping of exon 13 and that this variant transcript is not stably expressed based on an allelic imbalance assay on patient-derived RNA (PMID: 19471317, 22505045, 31143303). This variant has been reported in at least three individuals affected with breast and ovarian cancer (PMID: 22711857, 27741520, 28637432) and also in suspected hereditary breast and ovarian cancer families (PMID: 22505045, 22762150). Two similar variants at this nucleotide position, c.4484G>T and c.4484G>C, have been reported in individuals and families affected with breast and ovarian cancer (PMID: 10571952, 21120943, 22762150, 24607278, 27425403) and shown by RNA analysis to cause out-of-frame skipping of exon 13 (PMID: 10571952, 12915465, 21120943, 22505045, 24607278). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 26, 2024