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NM_007294.4(BRCA1):c.4447A>C (p.Ser1483Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509625.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4447A>C (p.Ser1483Arg)]

NM_007294.4(BRCA1):c.4447A>C (p.Ser1483Arg)

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.4447A>C (p.Ser1483Arg)
HGVS:
  • NC_000017.11:g.43076525T>G
  • NG_005905.2:g.141459A>C
  • NM_001407571.1:c.4234A>C
  • NM_001407581.1:c.4513A>C
  • NM_001407582.1:c.4513A>C
  • NM_001407583.1:c.4510A>C
  • NM_001407585.1:c.4510A>C
  • NM_001407587.1:c.4510A>C
  • NM_001407590.1:c.4507A>C
  • NM_001407591.1:c.4507A>C
  • NM_001407593.1:c.4447A>C
  • NM_001407594.1:c.4447A>C
  • NM_001407596.1:c.4447A>C
  • NM_001407597.1:c.4447A>C
  • NM_001407598.1:c.4447A>C
  • NM_001407602.1:c.4447A>C
  • NM_001407603.1:c.4447A>C
  • NM_001407605.1:c.4447A>C
  • NM_001407610.1:c.4444A>C
  • NM_001407611.1:c.4444A>C
  • NM_001407612.1:c.4444A>C
  • NM_001407613.1:c.4444A>C
  • NM_001407614.1:c.4444A>C
  • NM_001407615.1:c.4444A>C
  • NM_001407616.1:c.4444A>C
  • NM_001407617.1:c.4444A>C
  • NM_001407618.1:c.4444A>C
  • NM_001407619.1:c.4444A>C
  • NM_001407620.1:c.4444A>C
  • NM_001407621.1:c.4444A>C
  • NM_001407622.1:c.4444A>C
  • NM_001407623.1:c.4444A>C
  • NM_001407624.1:c.4444A>C
  • NM_001407625.1:c.4444A>C
  • NM_001407626.1:c.4444A>C
  • NM_001407627.1:c.4441A>C
  • NM_001407628.1:c.4441A>C
  • NM_001407629.1:c.4441A>C
  • NM_001407630.1:c.4441A>C
  • NM_001407631.1:c.4441A>C
  • NM_001407632.1:c.4441A>C
  • NM_001407633.1:c.4441A>C
  • NM_001407634.1:c.4441A>C
  • NM_001407635.1:c.4441A>C
  • NM_001407636.1:c.4441A>C
  • NM_001407637.1:c.4441A>C
  • NM_001407638.1:c.4441A>C
  • NM_001407639.1:c.4441A>C
  • NM_001407640.1:c.4441A>C
  • NM_001407641.1:c.4441A>C
  • NM_001407642.1:c.4441A>C
  • NM_001407644.1:c.4438A>C
  • NM_001407645.1:c.4438A>C
  • NM_001407646.1:c.4435A>C
  • NM_001407647.1:c.4432A>C
  • NM_001407648.1:c.4390A>C
  • NM_001407649.1:c.4387A>C
  • NM_001407652.1:c.4447A>C
  • NM_001407653.1:c.4369A>C
  • NM_001407654.1:c.4369A>C
  • NM_001407655.1:c.4369A>C
  • NM_001407656.1:c.4366A>C
  • NM_001407657.1:c.4366A>C
  • NM_001407658.1:c.4366A>C
  • NM_001407659.1:c.4363A>C
  • NM_001407660.1:c.4363A>C
  • NM_001407661.1:c.4363A>C
  • NM_001407662.1:c.4363A>C
  • NM_001407663.1:c.4363A>C
  • NM_001407664.1:c.4324A>C
  • NM_001407665.1:c.4324A>C
  • NM_001407666.1:c.4324A>C
  • NM_001407667.1:c.4324A>C
  • NM_001407668.1:c.4324A>C
  • NM_001407669.1:c.4324A>C
  • NM_001407670.1:c.4321A>C
  • NM_001407671.1:c.4321A>C
  • NM_001407672.1:c.4321A>C
  • NM_001407673.1:c.4321A>C
  • NM_001407674.1:c.4321A>C
  • NM_001407675.1:c.4321A>C
  • NM_001407676.1:c.4321A>C
  • NM_001407677.1:c.4321A>C
  • NM_001407678.1:c.4321A>C
  • NM_001407679.1:c.4321A>C
  • NM_001407680.1:c.4321A>C
  • NM_001407681.1:c.4318A>C
  • NM_001407682.1:c.4318A>C
  • NM_001407683.1:c.4318A>C
  • NM_001407684.1:c.4447A>C
  • NM_001407685.1:c.4318A>C
  • NM_001407686.1:c.4318A>C
  • NM_001407687.1:c.4318A>C
  • NM_001407688.1:c.4318A>C
  • NM_001407689.1:c.4318A>C
  • NM_001407690.1:c.4315A>C
  • NM_001407691.1:c.4315A>C
  • NM_001407692.1:c.4306A>C
  • NM_001407694.1:c.4306A>C
  • NM_001407695.1:c.4306A>C
  • NM_001407696.1:c.4306A>C
  • NM_001407697.1:c.4306A>C
  • NM_001407698.1:c.4306A>C
  • NM_001407724.1:c.4306A>C
  • NM_001407725.1:c.4306A>C
  • NM_001407726.1:c.4306A>C
  • NM_001407727.1:c.4306A>C
  • NM_001407728.1:c.4306A>C
  • NM_001407729.1:c.4306A>C
  • NM_001407730.1:c.4306A>C
  • NM_001407731.1:c.4306A>C
  • NM_001407732.1:c.4303A>C
  • NM_001407733.1:c.4303A>C
  • NM_001407734.1:c.4303A>C
  • NM_001407735.1:c.4303A>C
  • NM_001407736.1:c.4303A>C
  • NM_001407737.1:c.4303A>C
  • NM_001407738.1:c.4303A>C
  • NM_001407739.1:c.4303A>C
  • NM_001407740.1:c.4303A>C
  • NM_001407741.1:c.4303A>C
  • NM_001407742.1:c.4303A>C
  • NM_001407743.1:c.4303A>C
  • NM_001407744.1:c.4303A>C
  • NM_001407745.1:c.4303A>C
  • NM_001407746.1:c.4303A>C
  • NM_001407747.1:c.4303A>C
  • NM_001407748.1:c.4303A>C
  • NM_001407749.1:c.4303A>C
  • NM_001407750.1:c.4303A>C
  • NM_001407751.1:c.4303A>C
  • NM_001407752.1:c.4303A>C
  • NM_001407838.1:c.4300A>C
  • NM_001407839.1:c.4300A>C
  • NM_001407841.1:c.4300A>C
  • NM_001407842.1:c.4300A>C
  • NM_001407843.1:c.4300A>C
  • NM_001407844.1:c.4300A>C
  • NM_001407845.1:c.4300A>C
  • NM_001407846.1:c.4300A>C
  • NM_001407847.1:c.4300A>C
  • NM_001407848.1:c.4300A>C
  • NM_001407849.1:c.4300A>C
  • NM_001407850.1:c.4300A>C
  • NM_001407851.1:c.4300A>C
  • NM_001407852.1:c.4300A>C
  • NM_001407853.1:c.4300A>C
  • NM_001407854.1:c.4447A>C
  • NM_001407858.1:c.4444A>C
  • NM_001407859.1:c.4444A>C
  • NM_001407860.1:c.4444A>C
  • NM_001407861.1:c.4441A>C
  • NM_001407862.1:c.4246A>C
  • NM_001407863.1:c.4321A>C
  • NM_001407874.1:c.4240A>C
  • NM_001407875.1:c.4240A>C
  • NM_001407879.1:c.4237A>C
  • NM_001407881.1:c.4237A>C
  • NM_001407882.1:c.4237A>C
  • NM_001407884.1:c.4237A>C
  • NM_001407885.1:c.4237A>C
  • NM_001407886.1:c.4237A>C
  • NM_001407887.1:c.4237A>C
  • NM_001407889.1:c.4237A>C
  • NM_001407894.1:c.4234A>C
  • NM_001407895.1:c.4234A>C
  • NM_001407896.1:c.4234A>C
  • NM_001407897.1:c.4234A>C
  • NM_001407898.1:c.4234A>C
  • NM_001407899.1:c.4234A>C
  • NM_001407900.1:c.4234A>C
  • NM_001407902.1:c.4234A>C
  • NM_001407904.1:c.4234A>C
  • NM_001407906.1:c.4234A>C
  • NM_001407907.1:c.4234A>C
  • NM_001407908.1:c.4234A>C
  • NM_001407909.1:c.4234A>C
  • NM_001407910.1:c.4234A>C
  • NM_001407915.1:c.4231A>C
  • NM_001407916.1:c.4231A>C
  • NM_001407917.1:c.4231A>C
  • NM_001407918.1:c.4231A>C
  • NM_001407919.1:c.4324A>C
  • NM_001407920.1:c.4183A>C
  • NM_001407921.1:c.4183A>C
  • NM_001407922.1:c.4183A>C
  • NM_001407923.1:c.4183A>C
  • NM_001407924.1:c.4183A>C
  • NM_001407925.1:c.4183A>C
  • NM_001407926.1:c.4183A>C
  • NM_001407927.1:c.4180A>C
  • NM_001407928.1:c.4180A>C
  • NM_001407929.1:c.4180A>C
  • NM_001407930.1:c.4180A>C
  • NM_001407931.1:c.4180A>C
  • NM_001407932.1:c.4180A>C
  • NM_001407933.1:c.4180A>C
  • NM_001407934.1:c.4177A>C
  • NM_001407935.1:c.4177A>C
  • NM_001407936.1:c.4177A>C
  • NM_001407937.1:c.4324A>C
  • NM_001407938.1:c.4324A>C
  • NM_001407939.1:c.4321A>C
  • NM_001407940.1:c.4321A>C
  • NM_001407941.1:c.4318A>C
  • NM_001407942.1:c.4306A>C
  • NM_001407943.1:c.4303A>C
  • NM_001407944.1:c.4303A>C
  • NM_001407945.1:c.4303A>C
  • NM_001407946.1:c.4114A>C
  • NM_001407947.1:c.4114A>C
  • NM_001407948.1:c.4114A>C
  • NM_001407949.1:c.4114A>C
  • NM_001407950.1:c.4111A>C
  • NM_001407951.1:c.4111A>C
  • NM_001407952.1:c.4111A>C
  • NM_001407953.1:c.4111A>C
  • NM_001407954.1:c.4111A>C
  • NM_001407955.1:c.4111A>C
  • NM_001407956.1:c.4108A>C
  • NM_001407957.1:c.4108A>C
  • NM_001407958.1:c.4108A>C
  • NM_001407959.1:c.4066A>C
  • NM_001407960.1:c.4063A>C
  • NM_001407962.1:c.4063A>C
  • NM_001407963.1:c.4060A>C
  • NM_001407965.1:c.3940A>C
  • NM_001407966.1:c.3559A>C
  • NM_001407967.1:c.3556A>C
  • NM_001407968.1:c.1843A>C
  • NM_001407969.1:c.1840A>C
  • NM_001407970.1:c.1204A>C
  • NM_001407971.1:c.1204A>C
  • NM_001407972.1:c.1201A>C
  • NM_001407973.1:c.1138A>C
  • NM_001407974.1:c.1138A>C
  • NM_001407975.1:c.1138A>C
  • NM_001407976.1:c.1138A>C
  • NM_001407977.1:c.1138A>C
  • NM_001407978.1:c.1138A>C
  • NM_001407979.1:c.1135A>C
  • NM_001407980.1:c.1135A>C
  • NM_001407981.1:c.1135A>C
  • NM_001407982.1:c.1135A>C
  • NM_001407983.1:c.1135A>C
  • NM_001407984.1:c.1135A>C
  • NM_001407985.1:c.1135A>C
  • NM_001407986.1:c.1135A>C
  • NM_001407990.1:c.1135A>C
  • NM_001407991.1:c.1135A>C
  • NM_001407992.1:c.1135A>C
  • NM_001407993.1:c.1135A>C
  • NM_001408392.1:c.1132A>C
  • NM_001408396.1:c.1132A>C
  • NM_001408397.1:c.1132A>C
  • NM_001408398.1:c.1132A>C
  • NM_001408399.1:c.1132A>C
  • NM_001408400.1:c.1132A>C
  • NM_001408401.1:c.1132A>C
  • NM_001408402.1:c.1132A>C
  • NM_001408403.1:c.1132A>C
  • NM_001408404.1:c.1132A>C
  • NM_001408406.1:c.1129A>C
  • NM_001408407.1:c.1129A>C
  • NM_001408408.1:c.1129A>C
  • NM_001408409.1:c.1126A>C
  • NM_001408410.1:c.1063A>C
  • NM_001408411.1:c.1060A>C
  • NM_001408412.1:c.1057A>C
  • NM_001408413.1:c.1057A>C
  • NM_001408414.1:c.1057A>C
  • NM_001408415.1:c.1057A>C
  • NM_001408416.1:c.1057A>C
  • NM_001408418.1:c.1021A>C
  • NM_001408419.1:c.1021A>C
  • NM_001408420.1:c.1021A>C
  • NM_001408421.1:c.1018A>C
  • NM_001408422.1:c.1018A>C
  • NM_001408423.1:c.1018A>C
  • NM_001408424.1:c.1018A>C
  • NM_001408425.1:c.1015A>C
  • NM_001408426.1:c.1015A>C
  • NM_001408427.1:c.1015A>C
  • NM_001408428.1:c.1015A>C
  • NM_001408429.1:c.1015A>C
  • NM_001408430.1:c.1015A>C
  • NM_001408431.1:c.1015A>C
  • NM_001408432.1:c.1012A>C
  • NM_001408433.1:c.1012A>C
  • NM_001408434.1:c.1012A>C
  • NM_001408435.1:c.1012A>C
  • NM_001408436.1:c.1012A>C
  • NM_001408437.1:c.1012A>C
  • NM_001408438.1:c.1012A>C
  • NM_001408439.1:c.1012A>C
  • NM_001408440.1:c.1012A>C
  • NM_001408441.1:c.1012A>C
  • NM_001408442.1:c.1012A>C
  • NM_001408443.1:c.1012A>C
  • NM_001408444.1:c.1012A>C
  • NM_001408445.1:c.1009A>C
  • NM_001408446.1:c.1009A>C
  • NM_001408447.1:c.1009A>C
  • NM_001408448.1:c.1009A>C
  • NM_001408450.1:c.1009A>C
  • NM_001408451.1:c.1003A>C
  • NM_001408452.1:c.997A>C
  • NM_001408453.1:c.997A>C
  • NM_001408454.1:c.997A>C
  • NM_001408455.1:c.997A>C
  • NM_001408456.1:c.997A>C
  • NM_001408457.1:c.997A>C
  • NM_001408458.1:c.994A>C
  • NM_001408459.1:c.994A>C
  • NM_001408460.1:c.994A>C
  • NM_001408461.1:c.994A>C
  • NM_001408462.1:c.994A>C
  • NM_001408463.1:c.994A>C
  • NM_001408464.1:c.994A>C
  • NM_001408465.1:c.994A>C
  • NM_001408466.1:c.994A>C
  • NM_001408467.1:c.994A>C
  • NM_001408468.1:c.991A>C
  • NM_001408469.1:c.991A>C
  • NM_001408470.1:c.991A>C
  • NM_001408472.1:c.1135A>C
  • NM_001408473.1:c.1132A>C
  • NM_001408474.1:c.937A>C
  • NM_001408475.1:c.934A>C
  • NM_001408476.1:c.934A>C
  • NM_001408478.1:c.928A>C
  • NM_001408479.1:c.928A>C
  • NM_001408480.1:c.928A>C
  • NM_001408481.1:c.925A>C
  • NM_001408482.1:c.925A>C
  • NM_001408483.1:c.925A>C
  • NM_001408484.1:c.925A>C
  • NM_001408485.1:c.925A>C
  • NM_001408489.1:c.925A>C
  • NM_001408490.1:c.925A>C
  • NM_001408491.1:c.925A>C
  • NM_001408492.1:c.922A>C
  • NM_001408493.1:c.922A>C
  • NM_001408494.1:c.898A>C
  • NM_001408495.1:c.892A>C
  • NM_001408496.1:c.874A>C
  • NM_001408497.1:c.874A>C
  • NM_001408498.1:c.874A>C
  • NM_001408499.1:c.874A>C
  • NM_001408500.1:c.874A>C
  • NM_001408501.1:c.874A>C
  • NM_001408502.1:c.871A>C
  • NM_001408503.1:c.871A>C
  • NM_001408504.1:c.871A>C
  • NM_001408505.1:c.868A>C
  • NM_001408506.1:c.811A>C
  • NM_001408507.1:c.808A>C
  • NM_001408508.1:c.799A>C
  • NM_001408509.1:c.796A>C
  • NM_001408510.1:c.757A>C
  • NM_001408511.1:c.754A>C
  • NM_001408512.1:c.634A>C
  • NM_007294.4:c.4447A>CMANE SELECT
  • NM_007297.4:c.4306A>C
  • NM_007298.4:c.1135A>C
  • NM_007299.4:c.1135A>C
  • NM_007300.4:c.4510A>C
  • NM_007304.2:c.1135A>C
  • NP_001394500.1:p.Ser1412Arg
  • NP_001394510.1:p.Ser1505Arg
  • NP_001394511.1:p.Ser1505Arg
  • NP_001394512.1:p.Ser1504Arg
  • NP_001394514.1:p.Ser1504Arg
  • NP_001394516.1:p.Ser1504Arg
  • NP_001394519.1:p.Ser1503Arg
  • NP_001394520.1:p.Ser1503Arg
  • NP_001394522.1:p.Ser1483Arg
  • NP_001394523.1:p.Ser1483Arg
  • NP_001394525.1:p.Ser1483Arg
  • NP_001394526.1:p.Ser1483Arg
  • NP_001394527.1:p.Ser1483Arg
  • NP_001394531.1:p.Ser1483Arg
  • NP_001394532.1:p.Ser1483Arg
  • NP_001394534.1:p.Ser1483Arg
  • NP_001394539.1:p.Ser1482Arg
  • NP_001394540.1:p.Ser1482Arg
  • NP_001394541.1:p.Ser1482Arg
  • NP_001394542.1:p.Ser1482Arg
  • NP_001394543.1:p.Ser1482Arg
  • NP_001394544.1:p.Ser1482Arg
  • NP_001394545.1:p.Ser1482Arg
  • NP_001394546.1:p.Ser1482Arg
  • NP_001394547.1:p.Ser1482Arg
  • NP_001394548.1:p.Ser1482Arg
  • NP_001394549.1:p.Ser1482Arg
  • NP_001394550.1:p.Ser1482Arg
  • NP_001394551.1:p.Ser1482Arg
  • NP_001394552.1:p.Ser1482Arg
  • NP_001394553.1:p.Ser1482Arg
  • NP_001394554.1:p.Ser1482Arg
  • NP_001394555.1:p.Ser1482Arg
  • NP_001394556.1:p.Ser1481Arg
  • NP_001394557.1:p.Ser1481Arg
  • NP_001394558.1:p.Ser1481Arg
  • NP_001394559.1:p.Ser1481Arg
  • NP_001394560.1:p.Ser1481Arg
  • NP_001394561.1:p.Ser1481Arg
  • NP_001394562.1:p.Ser1481Arg
  • NP_001394563.1:p.Ser1481Arg
  • NP_001394564.1:p.Ser1481Arg
  • NP_001394565.1:p.Ser1481Arg
  • NP_001394566.1:p.Ser1481Arg
  • NP_001394567.1:p.Ser1481Arg
  • NP_001394568.1:p.Ser1481Arg
  • NP_001394569.1:p.Ser1481Arg
  • NP_001394570.1:p.Ser1481Arg
  • NP_001394571.1:p.Ser1481Arg
  • NP_001394573.1:p.Ser1480Arg
  • NP_001394574.1:p.Ser1480Arg
  • NP_001394575.1:p.Ser1479Arg
  • NP_001394576.1:p.Ser1478Arg
  • NP_001394577.1:p.Ser1464Arg
  • NP_001394578.1:p.Ser1463Arg
  • NP_001394581.1:p.Ser1483Arg
  • NP_001394582.1:p.Ser1457Arg
  • NP_001394583.1:p.Ser1457Arg
  • NP_001394584.1:p.Ser1457Arg
  • NP_001394585.1:p.Ser1456Arg
  • NP_001394586.1:p.Ser1456Arg
  • NP_001394587.1:p.Ser1456Arg
  • NP_001394588.1:p.Ser1455Arg
  • NP_001394589.1:p.Ser1455Arg
  • NP_001394590.1:p.Ser1455Arg
  • NP_001394591.1:p.Ser1455Arg
  • NP_001394592.1:p.Ser1455Arg
  • NP_001394593.1:p.Ser1442Arg
  • NP_001394594.1:p.Ser1442Arg
  • NP_001394595.1:p.Ser1442Arg
  • NP_001394596.1:p.Ser1442Arg
  • NP_001394597.1:p.Ser1442Arg
  • NP_001394598.1:p.Ser1442Arg
  • NP_001394599.1:p.Ser1441Arg
  • NP_001394600.1:p.Ser1441Arg
  • NP_001394601.1:p.Ser1441Arg
  • NP_001394602.1:p.Ser1441Arg
  • NP_001394603.1:p.Ser1441Arg
  • NP_001394604.1:p.Ser1441Arg
  • NP_001394605.1:p.Ser1441Arg
  • NP_001394606.1:p.Ser1441Arg
  • NP_001394607.1:p.Ser1441Arg
  • NP_001394608.1:p.Ser1441Arg
  • NP_001394609.1:p.Ser1441Arg
  • NP_001394610.1:p.Ser1440Arg
  • NP_001394611.1:p.Ser1440Arg
  • NP_001394612.1:p.Ser1440Arg
  • NP_001394613.1:p.Ser1483Arg
  • NP_001394614.1:p.Ser1440Arg
  • NP_001394615.1:p.Ser1440Arg
  • NP_001394616.1:p.Ser1440Arg
  • NP_001394617.1:p.Ser1440Arg
  • NP_001394618.1:p.Ser1440Arg
  • NP_001394619.1:p.Ser1439Arg
  • NP_001394620.1:p.Ser1439Arg
  • NP_001394621.1:p.Ser1436Arg
  • NP_001394623.1:p.Ser1436Arg
  • NP_001394624.1:p.Ser1436Arg
  • NP_001394625.1:p.Ser1436Arg
  • NP_001394626.1:p.Ser1436Arg
  • NP_001394627.1:p.Ser1436Arg
  • NP_001394653.1:p.Ser1436Arg
  • NP_001394654.1:p.Ser1436Arg
  • NP_001394655.1:p.Ser1436Arg
  • NP_001394656.1:p.Ser1436Arg
  • NP_001394657.1:p.Ser1436Arg
  • NP_001394658.1:p.Ser1436Arg
  • NP_001394659.1:p.Ser1436Arg
  • NP_001394660.1:p.Ser1436Arg
  • NP_001394661.1:p.Ser1435Arg
  • NP_001394662.1:p.Ser1435Arg
  • NP_001394663.1:p.Ser1435Arg
  • NP_001394664.1:p.Ser1435Arg
  • NP_001394665.1:p.Ser1435Arg
  • NP_001394666.1:p.Ser1435Arg
  • NP_001394667.1:p.Ser1435Arg
  • NP_001394668.1:p.Ser1435Arg
  • NP_001394669.1:p.Ser1435Arg
  • NP_001394670.1:p.Ser1435Arg
  • NP_001394671.1:p.Ser1435Arg
  • NP_001394672.1:p.Ser1435Arg
  • NP_001394673.1:p.Ser1435Arg
  • NP_001394674.1:p.Ser1435Arg
  • NP_001394675.1:p.Ser1435Arg
  • NP_001394676.1:p.Ser1435Arg
  • NP_001394677.1:p.Ser1435Arg
  • NP_001394678.1:p.Ser1435Arg
  • NP_001394679.1:p.Ser1435Arg
  • NP_001394680.1:p.Ser1435Arg
  • NP_001394681.1:p.Ser1435Arg
  • NP_001394767.1:p.Ser1434Arg
  • NP_001394768.1:p.Ser1434Arg
  • NP_001394770.1:p.Ser1434Arg
  • NP_001394771.1:p.Ser1434Arg
  • NP_001394772.1:p.Ser1434Arg
  • NP_001394773.1:p.Ser1434Arg
  • NP_001394774.1:p.Ser1434Arg
  • NP_001394775.1:p.Ser1434Arg
  • NP_001394776.1:p.Ser1434Arg
  • NP_001394777.1:p.Ser1434Arg
  • NP_001394778.1:p.Ser1434Arg
  • NP_001394779.1:p.Ser1434Arg
  • NP_001394780.1:p.Ser1434Arg
  • NP_001394781.1:p.Ser1434Arg
  • NP_001394782.1:p.Ser1434Arg
  • NP_001394783.1:p.Ser1483Arg
  • NP_001394787.1:p.Ser1482Arg
  • NP_001394788.1:p.Ser1482Arg
  • NP_001394789.1:p.Ser1482Arg
  • NP_001394790.1:p.Ser1481Arg
  • NP_001394791.1:p.Ser1416Arg
  • NP_001394792.1:p.Ser1441Arg
  • NP_001394803.1:p.Ser1414Arg
  • NP_001394804.1:p.Ser1414Arg
  • NP_001394808.1:p.Ser1413Arg
  • NP_001394810.1:p.Ser1413Arg
  • NP_001394811.1:p.Ser1413Arg
  • NP_001394813.1:p.Ser1413Arg
  • NP_001394814.1:p.Ser1413Arg
  • NP_001394815.1:p.Ser1413Arg
  • NP_001394816.1:p.Ser1413Arg
  • NP_001394818.1:p.Ser1413Arg
  • NP_001394823.1:p.Ser1412Arg
  • NP_001394824.1:p.Ser1412Arg
  • NP_001394825.1:p.Ser1412Arg
  • NP_001394826.1:p.Ser1412Arg
  • NP_001394827.1:p.Ser1412Arg
  • NP_001394828.1:p.Ser1412Arg
  • NP_001394829.1:p.Ser1412Arg
  • NP_001394831.1:p.Ser1412Arg
  • NP_001394833.1:p.Ser1412Arg
  • NP_001394835.1:p.Ser1412Arg
  • NP_001394836.1:p.Ser1412Arg
  • NP_001394837.1:p.Ser1412Arg
  • NP_001394838.1:p.Ser1412Arg
  • NP_001394839.1:p.Ser1412Arg
  • NP_001394844.1:p.Ser1411Arg
  • NP_001394845.1:p.Ser1411Arg
  • NP_001394846.1:p.Ser1411Arg
  • NP_001394847.1:p.Ser1411Arg
  • NP_001394848.1:p.Ser1442Arg
  • NP_001394849.1:p.Ser1395Arg
  • NP_001394850.1:p.Ser1395Arg
  • NP_001394851.1:p.Ser1395Arg
  • NP_001394852.1:p.Ser1395Arg
  • NP_001394853.1:p.Ser1395Arg
  • NP_001394854.1:p.Ser1395Arg
  • NP_001394855.1:p.Ser1395Arg
  • NP_001394856.1:p.Ser1394Arg
  • NP_001394857.1:p.Ser1394Arg
  • NP_001394858.1:p.Ser1394Arg
  • NP_001394859.1:p.Ser1394Arg
  • NP_001394860.1:p.Ser1394Arg
  • NP_001394861.1:p.Ser1394Arg
  • NP_001394862.1:p.Ser1394Arg
  • NP_001394863.1:p.Ser1393Arg
  • NP_001394864.1:p.Ser1393Arg
  • NP_001394865.1:p.Ser1393Arg
  • NP_001394866.1:p.Ser1442Arg
  • NP_001394867.1:p.Ser1442Arg
  • NP_001394868.1:p.Ser1441Arg
  • NP_001394869.1:p.Ser1441Arg
  • NP_001394870.1:p.Ser1440Arg
  • NP_001394871.1:p.Ser1436Arg
  • NP_001394872.1:p.Ser1435Arg
  • NP_001394873.1:p.Ser1435Arg
  • NP_001394874.1:p.Ser1435Arg
  • NP_001394875.1:p.Ser1372Arg
  • NP_001394876.1:p.Ser1372Arg
  • NP_001394877.1:p.Ser1372Arg
  • NP_001394878.1:p.Ser1372Arg
  • NP_001394879.1:p.Ser1371Arg
  • NP_001394880.1:p.Ser1371Arg
  • NP_001394881.1:p.Ser1371Arg
  • NP_001394882.1:p.Ser1371Arg
  • NP_001394883.1:p.Ser1371Arg
  • NP_001394884.1:p.Ser1371Arg
  • NP_001394885.1:p.Ser1370Arg
  • NP_001394886.1:p.Ser1370Arg
  • NP_001394887.1:p.Ser1370Arg
  • NP_001394888.1:p.Ser1356Arg
  • NP_001394889.1:p.Ser1355Arg
  • NP_001394891.1:p.Ser1355Arg
  • NP_001394892.1:p.Ser1354Arg
  • NP_001394894.1:p.Ser1314Arg
  • NP_001394895.1:p.Ser1187Arg
  • NP_001394896.1:p.Ser1186Arg
  • NP_001394897.1:p.Ser615Arg
  • NP_001394898.1:p.Ser614Arg
  • NP_001394899.1:p.Ser402Arg
  • NP_001394900.1:p.Ser402Arg
  • NP_001394901.1:p.Ser401Arg
  • NP_001394902.1:p.Ser380Arg
  • NP_001394903.1:p.Ser380Arg
  • NP_001394904.1:p.Ser380Arg
  • NP_001394905.1:p.Ser380Arg
  • NP_001394906.1:p.Ser380Arg
  • NP_001394907.1:p.Ser380Arg
  • NP_001394908.1:p.Ser379Arg
  • NP_001394909.1:p.Ser379Arg
  • NP_001394910.1:p.Ser379Arg
  • NP_001394911.1:p.Ser379Arg
  • NP_001394912.1:p.Ser379Arg
  • NP_001394913.1:p.Ser379Arg
  • NP_001394914.1:p.Ser379Arg
  • NP_001394915.1:p.Ser379Arg
  • NP_001394919.1:p.Ser379Arg
  • NP_001394920.1:p.Ser379Arg
  • NP_001394921.1:p.Ser379Arg
  • NP_001394922.1:p.Ser379Arg
  • NP_001395321.1:p.Ser378Arg
  • NP_001395325.1:p.Ser378Arg
  • NP_001395326.1:p.Ser378Arg
  • NP_001395327.1:p.Ser378Arg
  • NP_001395328.1:p.Ser378Arg
  • NP_001395329.1:p.Ser378Arg
  • NP_001395330.1:p.Ser378Arg
  • NP_001395331.1:p.Ser378Arg
  • NP_001395332.1:p.Ser378Arg
  • NP_001395333.1:p.Ser378Arg
  • NP_001395335.1:p.Ser377Arg
  • NP_001395336.1:p.Ser377Arg
  • NP_001395337.1:p.Ser377Arg
  • NP_001395338.1:p.Ser376Arg
  • NP_001395339.1:p.Ser355Arg
  • NP_001395340.1:p.Ser354Arg
  • NP_001395341.1:p.Ser353Arg
  • NP_001395342.1:p.Ser353Arg
  • NP_001395343.1:p.Ser353Arg
  • NP_001395344.1:p.Ser353Arg
  • NP_001395345.1:p.Ser353Arg
  • NP_001395347.1:p.Ser341Arg
  • NP_001395348.1:p.Ser341Arg
  • NP_001395349.1:p.Ser341Arg
  • NP_001395350.1:p.Ser340Arg
  • NP_001395351.1:p.Ser340Arg
  • NP_001395352.1:p.Ser340Arg
  • NP_001395353.1:p.Ser340Arg
  • NP_001395354.1:p.Ser339Arg
  • NP_001395355.1:p.Ser339Arg
  • NP_001395356.1:p.Ser339Arg
  • NP_001395357.1:p.Ser339Arg
  • NP_001395358.1:p.Ser339Arg
  • NP_001395359.1:p.Ser339Arg
  • NP_001395360.1:p.Ser339Arg
  • NP_001395361.1:p.Ser338Arg
  • NP_001395362.1:p.Ser338Arg
  • NP_001395363.1:p.Ser338Arg
  • NP_001395364.1:p.Ser338Arg
  • NP_001395365.1:p.Ser338Arg
  • NP_001395366.1:p.Ser338Arg
  • NP_001395367.1:p.Ser338Arg
  • NP_001395368.1:p.Ser338Arg
  • NP_001395369.1:p.Ser338Arg
  • NP_001395370.1:p.Ser338Arg
  • NP_001395371.1:p.Ser338Arg
  • NP_001395372.1:p.Ser338Arg
  • NP_001395373.1:p.Ser338Arg
  • NP_001395374.1:p.Ser337Arg
  • NP_001395375.1:p.Ser337Arg
  • NP_001395376.1:p.Ser337Arg
  • NP_001395377.1:p.Ser337Arg
  • NP_001395379.1:p.Ser337Arg
  • NP_001395380.1:p.Ser335Arg
  • NP_001395381.1:p.Ser333Arg
  • NP_001395382.1:p.Ser333Arg
  • NP_001395383.1:p.Ser333Arg
  • NP_001395384.1:p.Ser333Arg
  • NP_001395385.1:p.Ser333Arg
  • NP_001395386.1:p.Ser333Arg
  • NP_001395387.1:p.Ser332Arg
  • NP_001395388.1:p.Ser332Arg
  • NP_001395389.1:p.Ser332Arg
  • NP_001395390.1:p.Ser332Arg
  • NP_001395391.1:p.Ser332Arg
  • NP_001395392.1:p.Ser332Arg
  • NP_001395393.1:p.Ser332Arg
  • NP_001395394.1:p.Ser332Arg
  • NP_001395395.1:p.Ser332Arg
  • NP_001395396.1:p.Ser332Arg
  • NP_001395397.1:p.Ser331Arg
  • NP_001395398.1:p.Ser331Arg
  • NP_001395399.1:p.Ser331Arg
  • NP_001395401.1:p.Ser379Arg
  • NP_001395402.1:p.Ser378Arg
  • NP_001395403.1:p.Ser313Arg
  • NP_001395404.1:p.Ser312Arg
  • NP_001395405.1:p.Ser312Arg
  • NP_001395407.1:p.Ser310Arg
  • NP_001395408.1:p.Ser310Arg
  • NP_001395409.1:p.Ser310Arg
  • NP_001395410.1:p.Ser309Arg
  • NP_001395411.1:p.Ser309Arg
  • NP_001395412.1:p.Ser309Arg
  • NP_001395413.1:p.Ser309Arg
  • NP_001395414.1:p.Ser309Arg
  • NP_001395418.1:p.Ser309Arg
  • NP_001395419.1:p.Ser309Arg
  • NP_001395420.1:p.Ser309Arg
  • NP_001395421.1:p.Ser308Arg
  • NP_001395422.1:p.Ser308Arg
  • NP_001395423.1:p.Ser300Arg
  • NP_001395424.1:p.Ser298Arg
  • NP_001395425.1:p.Ser292Arg
  • NP_001395426.1:p.Ser292Arg
  • NP_001395427.1:p.Ser292Arg
  • NP_001395428.1:p.Ser292Arg
  • NP_001395429.1:p.Ser292Arg
  • NP_001395430.1:p.Ser292Arg
  • NP_001395431.1:p.Ser291Arg
  • NP_001395432.1:p.Ser291Arg
  • NP_001395433.1:p.Ser291Arg
  • NP_001395434.1:p.Ser290Arg
  • NP_001395435.1:p.Ser271Arg
  • NP_001395436.1:p.Ser270Arg
  • NP_001395437.1:p.Ser267Arg
  • NP_001395438.1:p.Ser266Arg
  • NP_001395439.1:p.Ser253Arg
  • NP_001395440.1:p.Ser252Arg
  • NP_001395441.1:p.Ser212Arg
  • NP_009225.1:p.Ser1483Arg
  • NP_009225.1:p.Ser1483Arg
  • NP_009228.2:p.Ser1436Arg
  • NP_009229.2:p.Ser379Arg
  • NP_009229.2:p.Ser379Arg
  • NP_009230.2:p.Ser379Arg
  • NP_009231.2:p.Ser1504Arg
  • NP_009235.2:p.Ser379Arg
  • LRG_292t1:c.4447A>C
  • LRG_292:g.141459A>C
  • LRG_292p1:p.Ser1483Arg
  • NC_000017.10:g.41228542T>G
  • NM_007294.3:c.4447A>C
  • NM_007298.3:c.1135A>C
  • NR_027676.2:n.4624A>C
Protein change:
S1186R
Links:
dbSNP: rs1555582583
NCBI 1000 Genomes Browser:
rs1555582583
Molecular consequence:
  • NM_001407571.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4513A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4513A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4507A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4507A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4438A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4438A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4435A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4432A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4390A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4369A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4369A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4369A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4366A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4366A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4366A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4363A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4363A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4363A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4363A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4363A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4315A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4315A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4444A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4441A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4246A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4240A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4240A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4237A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4234A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4231A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4231A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4231A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4231A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4177A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4177A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4177A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4324A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4321A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4318A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4114A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4114A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4114A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4114A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4111A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4108A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4108A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4108A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4066A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4063A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4063A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3559A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1843A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1204A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1204A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1201A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1129A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1129A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1129A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1126A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1063A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1021A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1021A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1021A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1018A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1018A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1018A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1018A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1015A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1012A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.997A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.991A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.991A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.991A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.928A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.928A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.928A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.925A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.922A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.922A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.898A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.892A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.874A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.799A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.757A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.754A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.634A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4447A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4624A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608106Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 6, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

Details of each submission

From Ambry Genetics, SCV000608106.5

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

Description

The p.S1483R variant (also known as c.4447A>C), located in coding exon 12 of the BRCA1 gene, results from an A to C substitution at nucleotide position 4447. The serine at codon 1483 is replaced by arginine, an amino acid with dissimilar properties. This alteration was not observed in 7,051 unselected female breast cancer patients and was observed with an allele frequency of one in 11,241 female controls of Japanese ancestry. In addition, it was not observed in unselected male breast cancer patients and was observed with an allele frequency of one in 12490 male controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024