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NM_007294.4(BRCA1):c.4647A>C (p.Glu1549Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2018
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:
RCV000562968.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4647A>C (p.Glu1549Asp)]

NM_007294.4(BRCA1):c.4647A>C (p.Glu1549Asp)

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.4647A>C (p.Glu1549Asp)
HGVS:
  • NC_000017.11:g.43074359T>G
  • NG_005905.2:g.143625A>C
  • NM_001407571.1:c.4434A>C
  • NM_001407581.1:c.4713A>C
  • NM_001407582.1:c.4713A>C
  • NM_001407583.1:c.4710A>C
  • NM_001407585.1:c.4710A>C
  • NM_001407587.1:c.4710A>C
  • NM_001407590.1:c.4707A>C
  • NM_001407591.1:c.4707A>C
  • NM_001407593.1:c.4647A>C
  • NM_001407594.1:c.4647A>C
  • NM_001407596.1:c.4647A>C
  • NM_001407597.1:c.4647A>C
  • NM_001407598.1:c.4647A>C
  • NM_001407602.1:c.4647A>C
  • NM_001407603.1:c.4647A>C
  • NM_001407605.1:c.4647A>C
  • NM_001407610.1:c.4644A>C
  • NM_001407611.1:c.4644A>C
  • NM_001407612.1:c.4644A>C
  • NM_001407613.1:c.4644A>C
  • NM_001407614.1:c.4644A>C
  • NM_001407615.1:c.4644A>C
  • NM_001407616.1:c.4644A>C
  • NM_001407617.1:c.4644A>C
  • NM_001407618.1:c.4644A>C
  • NM_001407619.1:c.4644A>C
  • NM_001407620.1:c.4644A>C
  • NM_001407621.1:c.4644A>C
  • NM_001407622.1:c.4644A>C
  • NM_001407623.1:c.4644A>C
  • NM_001407624.1:c.4644A>C
  • NM_001407625.1:c.4644A>C
  • NM_001407626.1:c.4644A>C
  • NM_001407627.1:c.4641A>C
  • NM_001407628.1:c.4641A>C
  • NM_001407629.1:c.4641A>C
  • NM_001407630.1:c.4641A>C
  • NM_001407631.1:c.4641A>C
  • NM_001407632.1:c.4641A>C
  • NM_001407633.1:c.4641A>C
  • NM_001407634.1:c.4641A>C
  • NM_001407635.1:c.4641A>C
  • NM_001407636.1:c.4641A>C
  • NM_001407637.1:c.4641A>C
  • NM_001407638.1:c.4641A>C
  • NM_001407639.1:c.4641A>C
  • NM_001407640.1:c.4641A>C
  • NM_001407641.1:c.4641A>C
  • NM_001407642.1:c.4641A>C
  • NM_001407644.1:c.4638A>C
  • NM_001407645.1:c.4638A>C
  • NM_001407646.1:c.4635A>C
  • NM_001407647.1:c.4632A>C
  • NM_001407648.1:c.4590A>C
  • NM_001407649.1:c.4587A>C
  • NM_001407652.1:c.4647A>C
  • NM_001407653.1:c.4569A>C
  • NM_001407654.1:c.4569A>C
  • NM_001407655.1:c.4569A>C
  • NM_001407656.1:c.4566A>C
  • NM_001407657.1:c.4566A>C
  • NM_001407658.1:c.4566A>C
  • NM_001407659.1:c.4563A>C
  • NM_001407660.1:c.4563A>C
  • NM_001407661.1:c.4563A>C
  • NM_001407662.1:c.4563A>C
  • NM_001407663.1:c.4563A>C
  • NM_001407664.1:c.4524A>C
  • NM_001407665.1:c.4524A>C
  • NM_001407666.1:c.4524A>C
  • NM_001407667.1:c.4524A>C
  • NM_001407668.1:c.4524A>C
  • NM_001407669.1:c.4524A>C
  • NM_001407670.1:c.4521A>C
  • NM_001407671.1:c.4521A>C
  • NM_001407672.1:c.4521A>C
  • NM_001407673.1:c.4521A>C
  • NM_001407674.1:c.4521A>C
  • NM_001407675.1:c.4521A>C
  • NM_001407676.1:c.4521A>C
  • NM_001407677.1:c.4521A>C
  • NM_001407678.1:c.4521A>C
  • NM_001407679.1:c.4521A>C
  • NM_001407680.1:c.4521A>C
  • NM_001407681.1:c.4518A>C
  • NM_001407682.1:c.4518A>C
  • NM_001407683.1:c.4518A>C
  • NM_001407684.1:c.4647A>C
  • NM_001407685.1:c.4518A>C
  • NM_001407686.1:c.4518A>C
  • NM_001407687.1:c.4518A>C
  • NM_001407688.1:c.4518A>C
  • NM_001407689.1:c.4518A>C
  • NM_001407690.1:c.4515A>C
  • NM_001407691.1:c.4515A>C
  • NM_001407692.1:c.4506A>C
  • NM_001407694.1:c.4506A>C
  • NM_001407695.1:c.4506A>C
  • NM_001407696.1:c.4506A>C
  • NM_001407697.1:c.4506A>C
  • NM_001407698.1:c.4506A>C
  • NM_001407724.1:c.4506A>C
  • NM_001407725.1:c.4506A>C
  • NM_001407726.1:c.4506A>C
  • NM_001407727.1:c.4506A>C
  • NM_001407728.1:c.4506A>C
  • NM_001407729.1:c.4506A>C
  • NM_001407730.1:c.4506A>C
  • NM_001407731.1:c.4506A>C
  • NM_001407732.1:c.4503A>C
  • NM_001407733.1:c.4503A>C
  • NM_001407734.1:c.4503A>C
  • NM_001407735.1:c.4503A>C
  • NM_001407736.1:c.4503A>C
  • NM_001407737.1:c.4503A>C
  • NM_001407738.1:c.4503A>C
  • NM_001407739.1:c.4503A>C
  • NM_001407740.1:c.4503A>C
  • NM_001407741.1:c.4503A>C
  • NM_001407742.1:c.4503A>C
  • NM_001407743.1:c.4503A>C
  • NM_001407744.1:c.4503A>C
  • NM_001407745.1:c.4503A>C
  • NM_001407746.1:c.4503A>C
  • NM_001407747.1:c.4503A>C
  • NM_001407748.1:c.4503A>C
  • NM_001407749.1:c.4503A>C
  • NM_001407750.1:c.4503A>C
  • NM_001407751.1:c.4503A>C
  • NM_001407752.1:c.4503A>C
  • NM_001407838.1:c.4500A>C
  • NM_001407839.1:c.4500A>C
  • NM_001407841.1:c.4500A>C
  • NM_001407842.1:c.4500A>C
  • NM_001407843.1:c.4500A>C
  • NM_001407844.1:c.4500A>C
  • NM_001407845.1:c.4500A>C
  • NM_001407846.1:c.4500A>C
  • NM_001407847.1:c.4500A>C
  • NM_001407848.1:c.4500A>C
  • NM_001407849.1:c.4500A>C
  • NM_001407850.1:c.4500A>C
  • NM_001407851.1:c.4500A>C
  • NM_001407852.1:c.4500A>C
  • NM_001407853.1:c.4500A>C
  • NM_001407854.1:c.4647A>C
  • NM_001407858.1:c.4644A>C
  • NM_001407859.1:c.4644A>C
  • NM_001407860.1:c.4644A>C
  • NM_001407861.1:c.4641A>C
  • NM_001407862.1:c.4446A>C
  • NM_001407863.1:c.4521A>C
  • NM_001407874.1:c.4440A>C
  • NM_001407875.1:c.4440A>C
  • NM_001407879.1:c.4437A>C
  • NM_001407881.1:c.4437A>C
  • NM_001407882.1:c.4437A>C
  • NM_001407884.1:c.4437A>C
  • NM_001407885.1:c.4437A>C
  • NM_001407886.1:c.4437A>C
  • NM_001407887.1:c.4437A>C
  • NM_001407889.1:c.4437A>C
  • NM_001407894.1:c.4434A>C
  • NM_001407895.1:c.4434A>C
  • NM_001407896.1:c.4434A>C
  • NM_001407897.1:c.4434A>C
  • NM_001407898.1:c.4434A>C
  • NM_001407899.1:c.4434A>C
  • NM_001407900.1:c.4434A>C
  • NM_001407902.1:c.4434A>C
  • NM_001407904.1:c.4434A>C
  • NM_001407906.1:c.4434A>C
  • NM_001407907.1:c.4434A>C
  • NM_001407908.1:c.4434A>C
  • NM_001407909.1:c.4434A>C
  • NM_001407910.1:c.4434A>C
  • NM_001407915.1:c.4431A>C
  • NM_001407916.1:c.4431A>C
  • NM_001407917.1:c.4431A>C
  • NM_001407918.1:c.4431A>C
  • NM_001407919.1:c.4524A>C
  • NM_001407920.1:c.4383A>C
  • NM_001407921.1:c.4383A>C
  • NM_001407922.1:c.4383A>C
  • NM_001407923.1:c.4383A>C
  • NM_001407924.1:c.4383A>C
  • NM_001407925.1:c.4383A>C
  • NM_001407926.1:c.4383A>C
  • NM_001407927.1:c.4380A>C
  • NM_001407928.1:c.4380A>C
  • NM_001407929.1:c.4380A>C
  • NM_001407930.1:c.4380A>C
  • NM_001407931.1:c.4380A>C
  • NM_001407932.1:c.4380A>C
  • NM_001407933.1:c.4380A>C
  • NM_001407934.1:c.4377A>C
  • NM_001407935.1:c.4377A>C
  • NM_001407936.1:c.4377A>C
  • NM_001407937.1:c.4524A>C
  • NM_001407938.1:c.4524A>C
  • NM_001407939.1:c.4521A>C
  • NM_001407940.1:c.4521A>C
  • NM_001407941.1:c.4518A>C
  • NM_001407942.1:c.4506A>C
  • NM_001407943.1:c.4503A>C
  • NM_001407944.1:c.4503A>C
  • NM_001407945.1:c.4503A>C
  • NM_001407946.1:c.4314A>C
  • NM_001407947.1:c.4314A>C
  • NM_001407948.1:c.4314A>C
  • NM_001407949.1:c.4314A>C
  • NM_001407950.1:c.4311A>C
  • NM_001407951.1:c.4311A>C
  • NM_001407952.1:c.4311A>C
  • NM_001407953.1:c.4311A>C
  • NM_001407954.1:c.4311A>C
  • NM_001407955.1:c.4311A>C
  • NM_001407956.1:c.4308A>C
  • NM_001407957.1:c.4308A>C
  • NM_001407958.1:c.4308A>C
  • NM_001407959.1:c.4266A>C
  • NM_001407960.1:c.4263A>C
  • NM_001407962.1:c.4263A>C
  • NM_001407963.1:c.4260A>C
  • NM_001407965.1:c.4140A>C
  • NM_001407966.1:c.3759A>C
  • NM_001407967.1:c.3756A>C
  • NM_001407968.1:c.2043A>C
  • NM_001407969.1:c.2040A>C
  • NM_001407970.1:c.1404A>C
  • NM_001407971.1:c.1404A>C
  • NM_001407972.1:c.1401A>C
  • NM_001407973.1:c.1338A>C
  • NM_001407974.1:c.1338A>C
  • NM_001407975.1:c.1338A>C
  • NM_001407976.1:c.1338A>C
  • NM_001407977.1:c.1338A>C
  • NM_001407978.1:c.1338A>C
  • NM_001407979.1:c.1335A>C
  • NM_001407980.1:c.1335A>C
  • NM_001407981.1:c.1335A>C
  • NM_001407982.1:c.1335A>C
  • NM_001407983.1:c.1335A>C
  • NM_001407984.1:c.1335A>C
  • NM_001407985.1:c.1335A>C
  • NM_001407986.1:c.1335A>C
  • NM_001407990.1:c.1335A>C
  • NM_001407991.1:c.1335A>C
  • NM_001407992.1:c.1335A>C
  • NM_001407993.1:c.1335A>C
  • NM_001408392.1:c.1332A>C
  • NM_001408396.1:c.1332A>C
  • NM_001408397.1:c.1332A>C
  • NM_001408398.1:c.1332A>C
  • NM_001408399.1:c.1332A>C
  • NM_001408400.1:c.1332A>C
  • NM_001408401.1:c.1332A>C
  • NM_001408402.1:c.1332A>C
  • NM_001408403.1:c.1332A>C
  • NM_001408404.1:c.1332A>C
  • NM_001408406.1:c.1329A>C
  • NM_001408407.1:c.1329A>C
  • NM_001408408.1:c.1329A>C
  • NM_001408409.1:c.1326A>C
  • NM_001408410.1:c.1263A>C
  • NM_001408411.1:c.1260A>C
  • NM_001408412.1:c.1257A>C
  • NM_001408413.1:c.1257A>C
  • NM_001408414.1:c.1257A>C
  • NM_001408415.1:c.1257A>C
  • NM_001408416.1:c.1257A>C
  • NM_001408418.1:c.1221A>C
  • NM_001408419.1:c.1221A>C
  • NM_001408420.1:c.1221A>C
  • NM_001408421.1:c.1218A>C
  • NM_001408422.1:c.1218A>C
  • NM_001408423.1:c.1218A>C
  • NM_001408424.1:c.1218A>C
  • NM_001408425.1:c.1215A>C
  • NM_001408426.1:c.1215A>C
  • NM_001408427.1:c.1215A>C
  • NM_001408428.1:c.1215A>C
  • NM_001408429.1:c.1215A>C
  • NM_001408430.1:c.1215A>C
  • NM_001408431.1:c.1215A>C
  • NM_001408432.1:c.1212A>C
  • NM_001408433.1:c.1212A>C
  • NM_001408434.1:c.1212A>C
  • NM_001408435.1:c.1212A>C
  • NM_001408436.1:c.1212A>C
  • NM_001408437.1:c.1212A>C
  • NM_001408438.1:c.1212A>C
  • NM_001408439.1:c.1212A>C
  • NM_001408440.1:c.1212A>C
  • NM_001408441.1:c.1212A>C
  • NM_001408442.1:c.1212A>C
  • NM_001408443.1:c.1212A>C
  • NM_001408444.1:c.1212A>C
  • NM_001408445.1:c.1209A>C
  • NM_001408446.1:c.1209A>C
  • NM_001408447.1:c.1209A>C
  • NM_001408448.1:c.1209A>C
  • NM_001408450.1:c.1209A>C
  • NM_001408451.1:c.1203A>C
  • NM_001408452.1:c.1197A>C
  • NM_001408453.1:c.1197A>C
  • NM_001408454.1:c.1197A>C
  • NM_001408455.1:c.1197A>C
  • NM_001408456.1:c.1197A>C
  • NM_001408457.1:c.1197A>C
  • NM_001408458.1:c.1194A>C
  • NM_001408459.1:c.1194A>C
  • NM_001408460.1:c.1194A>C
  • NM_001408461.1:c.1194A>C
  • NM_001408462.1:c.1194A>C
  • NM_001408463.1:c.1194A>C
  • NM_001408464.1:c.1194A>C
  • NM_001408465.1:c.1194A>C
  • NM_001408466.1:c.1194A>C
  • NM_001408467.1:c.1194A>C
  • NM_001408468.1:c.1191A>C
  • NM_001408469.1:c.1191A>C
  • NM_001408470.1:c.1191A>C
  • NM_001408472.1:c.1335A>C
  • NM_001408473.1:c.1332A>C
  • NM_001408474.1:c.1137A>C
  • NM_001408475.1:c.1134A>C
  • NM_001408476.1:c.1134A>C
  • NM_001408478.1:c.1128A>C
  • NM_001408479.1:c.1128A>C
  • NM_001408480.1:c.1128A>C
  • NM_001408481.1:c.1125A>C
  • NM_001408482.1:c.1125A>C
  • NM_001408483.1:c.1125A>C
  • NM_001408484.1:c.1125A>C
  • NM_001408485.1:c.1125A>C
  • NM_001408489.1:c.1125A>C
  • NM_001408490.1:c.1125A>C
  • NM_001408491.1:c.1125A>C
  • NM_001408492.1:c.1122A>C
  • NM_001408493.1:c.1122A>C
  • NM_001408494.1:c.1098A>C
  • NM_001408495.1:c.1092A>C
  • NM_001408496.1:c.1074A>C
  • NM_001408497.1:c.1074A>C
  • NM_001408498.1:c.1074A>C
  • NM_001408499.1:c.1074A>C
  • NM_001408500.1:c.1074A>C
  • NM_001408501.1:c.1074A>C
  • NM_001408502.1:c.1071A>C
  • NM_001408503.1:c.1071A>C
  • NM_001408504.1:c.1071A>C
  • NM_001408505.1:c.1068A>C
  • NM_001408506.1:c.1011A>C
  • NM_001408507.1:c.1008A>C
  • NM_001408508.1:c.999A>C
  • NM_001408509.1:c.996A>C
  • NM_001408510.1:c.957A>C
  • NM_001408511.1:c.954A>C
  • NM_001408512.1:c.834A>C
  • NM_007294.4:c.4647A>CMANE SELECT
  • NM_007297.4:c.4506A>C
  • NM_007298.4:c.1335A>C
  • NM_007299.4:c.1335A>C
  • NM_007300.4:c.4710A>C
  • NM_007304.2:c.1335A>C
  • NP_001394500.1:p.Glu1478Asp
  • NP_001394510.1:p.Glu1571Asp
  • NP_001394511.1:p.Glu1571Asp
  • NP_001394512.1:p.Glu1570Asp
  • NP_001394514.1:p.Glu1570Asp
  • NP_001394516.1:p.Glu1570Asp
  • NP_001394519.1:p.Glu1569Asp
  • NP_001394520.1:p.Glu1569Asp
  • NP_001394522.1:p.Glu1549Asp
  • NP_001394523.1:p.Glu1549Asp
  • NP_001394525.1:p.Glu1549Asp
  • NP_001394526.1:p.Glu1549Asp
  • NP_001394527.1:p.Glu1549Asp
  • NP_001394531.1:p.Glu1549Asp
  • NP_001394532.1:p.Glu1549Asp
  • NP_001394534.1:p.Glu1549Asp
  • NP_001394539.1:p.Glu1548Asp
  • NP_001394540.1:p.Glu1548Asp
  • NP_001394541.1:p.Glu1548Asp
  • NP_001394542.1:p.Glu1548Asp
  • NP_001394543.1:p.Glu1548Asp
  • NP_001394544.1:p.Glu1548Asp
  • NP_001394545.1:p.Glu1548Asp
  • NP_001394546.1:p.Glu1548Asp
  • NP_001394547.1:p.Glu1548Asp
  • NP_001394548.1:p.Glu1548Asp
  • NP_001394549.1:p.Glu1548Asp
  • NP_001394550.1:p.Glu1548Asp
  • NP_001394551.1:p.Glu1548Asp
  • NP_001394552.1:p.Glu1548Asp
  • NP_001394553.1:p.Glu1548Asp
  • NP_001394554.1:p.Glu1548Asp
  • NP_001394555.1:p.Glu1548Asp
  • NP_001394556.1:p.Glu1547Asp
  • NP_001394557.1:p.Glu1547Asp
  • NP_001394558.1:p.Glu1547Asp
  • NP_001394559.1:p.Glu1547Asp
  • NP_001394560.1:p.Glu1547Asp
  • NP_001394561.1:p.Glu1547Asp
  • NP_001394562.1:p.Glu1547Asp
  • NP_001394563.1:p.Glu1547Asp
  • NP_001394564.1:p.Glu1547Asp
  • NP_001394565.1:p.Glu1547Asp
  • NP_001394566.1:p.Glu1547Asp
  • NP_001394567.1:p.Glu1547Asp
  • NP_001394568.1:p.Glu1547Asp
  • NP_001394569.1:p.Glu1547Asp
  • NP_001394570.1:p.Glu1547Asp
  • NP_001394571.1:p.Glu1547Asp
  • NP_001394573.1:p.Glu1546Asp
  • NP_001394574.1:p.Glu1546Asp
  • NP_001394575.1:p.Glu1545Asp
  • NP_001394576.1:p.Glu1544Asp
  • NP_001394577.1:p.Glu1530Asp
  • NP_001394578.1:p.Glu1529Asp
  • NP_001394581.1:p.Glu1549Asp
  • NP_001394582.1:p.Glu1523Asp
  • NP_001394583.1:p.Glu1523Asp
  • NP_001394584.1:p.Glu1523Asp
  • NP_001394585.1:p.Glu1522Asp
  • NP_001394586.1:p.Glu1522Asp
  • NP_001394587.1:p.Glu1522Asp
  • NP_001394588.1:p.Glu1521Asp
  • NP_001394589.1:p.Glu1521Asp
  • NP_001394590.1:p.Glu1521Asp
  • NP_001394591.1:p.Glu1521Asp
  • NP_001394592.1:p.Glu1521Asp
  • NP_001394593.1:p.Glu1508Asp
  • NP_001394594.1:p.Glu1508Asp
  • NP_001394595.1:p.Glu1508Asp
  • NP_001394596.1:p.Glu1508Asp
  • NP_001394597.1:p.Glu1508Asp
  • NP_001394598.1:p.Glu1508Asp
  • NP_001394599.1:p.Glu1507Asp
  • NP_001394600.1:p.Glu1507Asp
  • NP_001394601.1:p.Glu1507Asp
  • NP_001394602.1:p.Glu1507Asp
  • NP_001394603.1:p.Glu1507Asp
  • NP_001394604.1:p.Glu1507Asp
  • NP_001394605.1:p.Glu1507Asp
  • NP_001394606.1:p.Glu1507Asp
  • NP_001394607.1:p.Glu1507Asp
  • NP_001394608.1:p.Glu1507Asp
  • NP_001394609.1:p.Glu1507Asp
  • NP_001394610.1:p.Glu1506Asp
  • NP_001394611.1:p.Glu1506Asp
  • NP_001394612.1:p.Glu1506Asp
  • NP_001394613.1:p.Glu1549Asp
  • NP_001394614.1:p.Glu1506Asp
  • NP_001394615.1:p.Glu1506Asp
  • NP_001394616.1:p.Glu1506Asp
  • NP_001394617.1:p.Glu1506Asp
  • NP_001394618.1:p.Glu1506Asp
  • NP_001394619.1:p.Glu1505Asp
  • NP_001394620.1:p.Glu1505Asp
  • NP_001394621.1:p.Glu1502Asp
  • NP_001394623.1:p.Glu1502Asp
  • NP_001394624.1:p.Glu1502Asp
  • NP_001394625.1:p.Glu1502Asp
  • NP_001394626.1:p.Glu1502Asp
  • NP_001394627.1:p.Glu1502Asp
  • NP_001394653.1:p.Glu1502Asp
  • NP_001394654.1:p.Glu1502Asp
  • NP_001394655.1:p.Glu1502Asp
  • NP_001394656.1:p.Glu1502Asp
  • NP_001394657.1:p.Glu1502Asp
  • NP_001394658.1:p.Glu1502Asp
  • NP_001394659.1:p.Glu1502Asp
  • NP_001394660.1:p.Glu1502Asp
  • NP_001394661.1:p.Glu1501Asp
  • NP_001394662.1:p.Glu1501Asp
  • NP_001394663.1:p.Glu1501Asp
  • NP_001394664.1:p.Glu1501Asp
  • NP_001394665.1:p.Glu1501Asp
  • NP_001394666.1:p.Glu1501Asp
  • NP_001394667.1:p.Glu1501Asp
  • NP_001394668.1:p.Glu1501Asp
  • NP_001394669.1:p.Glu1501Asp
  • NP_001394670.1:p.Glu1501Asp
  • NP_001394671.1:p.Glu1501Asp
  • NP_001394672.1:p.Glu1501Asp
  • NP_001394673.1:p.Glu1501Asp
  • NP_001394674.1:p.Glu1501Asp
  • NP_001394675.1:p.Glu1501Asp
  • NP_001394676.1:p.Glu1501Asp
  • NP_001394677.1:p.Glu1501Asp
  • NP_001394678.1:p.Glu1501Asp
  • NP_001394679.1:p.Glu1501Asp
  • NP_001394680.1:p.Glu1501Asp
  • NP_001394681.1:p.Glu1501Asp
  • NP_001394767.1:p.Glu1500Asp
  • NP_001394768.1:p.Glu1500Asp
  • NP_001394770.1:p.Glu1500Asp
  • NP_001394771.1:p.Glu1500Asp
  • NP_001394772.1:p.Glu1500Asp
  • NP_001394773.1:p.Glu1500Asp
  • NP_001394774.1:p.Glu1500Asp
  • NP_001394775.1:p.Glu1500Asp
  • NP_001394776.1:p.Glu1500Asp
  • NP_001394777.1:p.Glu1500Asp
  • NP_001394778.1:p.Glu1500Asp
  • NP_001394779.1:p.Glu1500Asp
  • NP_001394780.1:p.Glu1500Asp
  • NP_001394781.1:p.Glu1500Asp
  • NP_001394782.1:p.Glu1500Asp
  • NP_001394783.1:p.Glu1549Asp
  • NP_001394787.1:p.Glu1548Asp
  • NP_001394788.1:p.Glu1548Asp
  • NP_001394789.1:p.Glu1548Asp
  • NP_001394790.1:p.Glu1547Asp
  • NP_001394791.1:p.Glu1482Asp
  • NP_001394792.1:p.Glu1507Asp
  • NP_001394803.1:p.Glu1480Asp
  • NP_001394804.1:p.Glu1480Asp
  • NP_001394808.1:p.Glu1479Asp
  • NP_001394810.1:p.Glu1479Asp
  • NP_001394811.1:p.Glu1479Asp
  • NP_001394813.1:p.Glu1479Asp
  • NP_001394814.1:p.Glu1479Asp
  • NP_001394815.1:p.Glu1479Asp
  • NP_001394816.1:p.Glu1479Asp
  • NP_001394818.1:p.Glu1479Asp
  • NP_001394823.1:p.Glu1478Asp
  • NP_001394824.1:p.Glu1478Asp
  • NP_001394825.1:p.Glu1478Asp
  • NP_001394826.1:p.Glu1478Asp
  • NP_001394827.1:p.Glu1478Asp
  • NP_001394828.1:p.Glu1478Asp
  • NP_001394829.1:p.Glu1478Asp
  • NP_001394831.1:p.Glu1478Asp
  • NP_001394833.1:p.Glu1478Asp
  • NP_001394835.1:p.Glu1478Asp
  • NP_001394836.1:p.Glu1478Asp
  • NP_001394837.1:p.Glu1478Asp
  • NP_001394838.1:p.Glu1478Asp
  • NP_001394839.1:p.Glu1478Asp
  • NP_001394844.1:p.Glu1477Asp
  • NP_001394845.1:p.Glu1477Asp
  • NP_001394846.1:p.Glu1477Asp
  • NP_001394847.1:p.Glu1477Asp
  • NP_001394848.1:p.Glu1508Asp
  • NP_001394849.1:p.Glu1461Asp
  • NP_001394850.1:p.Glu1461Asp
  • NP_001394851.1:p.Glu1461Asp
  • NP_001394852.1:p.Glu1461Asp
  • NP_001394853.1:p.Glu1461Asp
  • NP_001394854.1:p.Glu1461Asp
  • NP_001394855.1:p.Glu1461Asp
  • NP_001394856.1:p.Glu1460Asp
  • NP_001394857.1:p.Glu1460Asp
  • NP_001394858.1:p.Glu1460Asp
  • NP_001394859.1:p.Glu1460Asp
  • NP_001394860.1:p.Glu1460Asp
  • NP_001394861.1:p.Glu1460Asp
  • NP_001394862.1:p.Glu1460Asp
  • NP_001394863.1:p.Glu1459Asp
  • NP_001394864.1:p.Glu1459Asp
  • NP_001394865.1:p.Glu1459Asp
  • NP_001394866.1:p.Glu1508Asp
  • NP_001394867.1:p.Glu1508Asp
  • NP_001394868.1:p.Glu1507Asp
  • NP_001394869.1:p.Glu1507Asp
  • NP_001394870.1:p.Glu1506Asp
  • NP_001394871.1:p.Glu1502Asp
  • NP_001394872.1:p.Glu1501Asp
  • NP_001394873.1:p.Glu1501Asp
  • NP_001394874.1:p.Glu1501Asp
  • NP_001394875.1:p.Glu1438Asp
  • NP_001394876.1:p.Glu1438Asp
  • NP_001394877.1:p.Glu1438Asp
  • NP_001394878.1:p.Glu1438Asp
  • NP_001394879.1:p.Glu1437Asp
  • NP_001394880.1:p.Glu1437Asp
  • NP_001394881.1:p.Glu1437Asp
  • NP_001394882.1:p.Glu1437Asp
  • NP_001394883.1:p.Glu1437Asp
  • NP_001394884.1:p.Glu1437Asp
  • NP_001394885.1:p.Glu1436Asp
  • NP_001394886.1:p.Glu1436Asp
  • NP_001394887.1:p.Glu1436Asp
  • NP_001394888.1:p.Glu1422Asp
  • NP_001394889.1:p.Glu1421Asp
  • NP_001394891.1:p.Glu1421Asp
  • NP_001394892.1:p.Glu1420Asp
  • NP_001394894.1:p.Glu1380Asp
  • NP_001394895.1:p.Glu1253Asp
  • NP_001394896.1:p.Glu1252Asp
  • NP_001394897.1:p.Glu681Asp
  • NP_001394898.1:p.Glu680Asp
  • NP_001394899.1:p.Glu468Asp
  • NP_001394900.1:p.Glu468Asp
  • NP_001394901.1:p.Glu467Asp
  • NP_001394902.1:p.Glu446Asp
  • NP_001394903.1:p.Glu446Asp
  • NP_001394904.1:p.Glu446Asp
  • NP_001394905.1:p.Glu446Asp
  • NP_001394906.1:p.Glu446Asp
  • NP_001394907.1:p.Glu446Asp
  • NP_001394908.1:p.Glu445Asp
  • NP_001394909.1:p.Glu445Asp
  • NP_001394910.1:p.Glu445Asp
  • NP_001394911.1:p.Glu445Asp
  • NP_001394912.1:p.Glu445Asp
  • NP_001394913.1:p.Glu445Asp
  • NP_001394914.1:p.Glu445Asp
  • NP_001394915.1:p.Glu445Asp
  • NP_001394919.1:p.Glu445Asp
  • NP_001394920.1:p.Glu445Asp
  • NP_001394921.1:p.Glu445Asp
  • NP_001394922.1:p.Glu445Asp
  • NP_001395321.1:p.Glu444Asp
  • NP_001395325.1:p.Glu444Asp
  • NP_001395326.1:p.Glu444Asp
  • NP_001395327.1:p.Glu444Asp
  • NP_001395328.1:p.Glu444Asp
  • NP_001395329.1:p.Glu444Asp
  • NP_001395330.1:p.Glu444Asp
  • NP_001395331.1:p.Glu444Asp
  • NP_001395332.1:p.Glu444Asp
  • NP_001395333.1:p.Glu444Asp
  • NP_001395335.1:p.Glu443Asp
  • NP_001395336.1:p.Glu443Asp
  • NP_001395337.1:p.Glu443Asp
  • NP_001395338.1:p.Glu442Asp
  • NP_001395339.1:p.Glu421Asp
  • NP_001395340.1:p.Glu420Asp
  • NP_001395341.1:p.Glu419Asp
  • NP_001395342.1:p.Glu419Asp
  • NP_001395343.1:p.Glu419Asp
  • NP_001395344.1:p.Glu419Asp
  • NP_001395345.1:p.Glu419Asp
  • NP_001395347.1:p.Glu407Asp
  • NP_001395348.1:p.Glu407Asp
  • NP_001395349.1:p.Glu407Asp
  • NP_001395350.1:p.Glu406Asp
  • NP_001395351.1:p.Glu406Asp
  • NP_001395352.1:p.Glu406Asp
  • NP_001395353.1:p.Glu406Asp
  • NP_001395354.1:p.Glu405Asp
  • NP_001395355.1:p.Glu405Asp
  • NP_001395356.1:p.Glu405Asp
  • NP_001395357.1:p.Glu405Asp
  • NP_001395358.1:p.Glu405Asp
  • NP_001395359.1:p.Glu405Asp
  • NP_001395360.1:p.Glu405Asp
  • NP_001395361.1:p.Glu404Asp
  • NP_001395362.1:p.Glu404Asp
  • NP_001395363.1:p.Glu404Asp
  • NP_001395364.1:p.Glu404Asp
  • NP_001395365.1:p.Glu404Asp
  • NP_001395366.1:p.Glu404Asp
  • NP_001395367.1:p.Glu404Asp
  • NP_001395368.1:p.Glu404Asp
  • NP_001395369.1:p.Glu404Asp
  • NP_001395370.1:p.Glu404Asp
  • NP_001395371.1:p.Glu404Asp
  • NP_001395372.1:p.Glu404Asp
  • NP_001395373.1:p.Glu404Asp
  • NP_001395374.1:p.Glu403Asp
  • NP_001395375.1:p.Glu403Asp
  • NP_001395376.1:p.Glu403Asp
  • NP_001395377.1:p.Glu403Asp
  • NP_001395379.1:p.Glu403Asp
  • NP_001395380.1:p.Glu401Asp
  • NP_001395381.1:p.Glu399Asp
  • NP_001395382.1:p.Glu399Asp
  • NP_001395383.1:p.Glu399Asp
  • NP_001395384.1:p.Glu399Asp
  • NP_001395385.1:p.Glu399Asp
  • NP_001395386.1:p.Glu399Asp
  • NP_001395387.1:p.Glu398Asp
  • NP_001395388.1:p.Glu398Asp
  • NP_001395389.1:p.Glu398Asp
  • NP_001395390.1:p.Glu398Asp
  • NP_001395391.1:p.Glu398Asp
  • NP_001395392.1:p.Glu398Asp
  • NP_001395393.1:p.Glu398Asp
  • NP_001395394.1:p.Glu398Asp
  • NP_001395395.1:p.Glu398Asp
  • NP_001395396.1:p.Glu398Asp
  • NP_001395397.1:p.Glu397Asp
  • NP_001395398.1:p.Glu397Asp
  • NP_001395399.1:p.Glu397Asp
  • NP_001395401.1:p.Glu445Asp
  • NP_001395402.1:p.Glu444Asp
  • NP_001395403.1:p.Glu379Asp
  • NP_001395404.1:p.Glu378Asp
  • NP_001395405.1:p.Glu378Asp
  • NP_001395407.1:p.Glu376Asp
  • NP_001395408.1:p.Glu376Asp
  • NP_001395409.1:p.Glu376Asp
  • NP_001395410.1:p.Glu375Asp
  • NP_001395411.1:p.Glu375Asp
  • NP_001395412.1:p.Glu375Asp
  • NP_001395413.1:p.Glu375Asp
  • NP_001395414.1:p.Glu375Asp
  • NP_001395418.1:p.Glu375Asp
  • NP_001395419.1:p.Glu375Asp
  • NP_001395420.1:p.Glu375Asp
  • NP_001395421.1:p.Glu374Asp
  • NP_001395422.1:p.Glu374Asp
  • NP_001395423.1:p.Glu366Asp
  • NP_001395424.1:p.Glu364Asp
  • NP_001395425.1:p.Glu358Asp
  • NP_001395426.1:p.Glu358Asp
  • NP_001395427.1:p.Glu358Asp
  • NP_001395428.1:p.Glu358Asp
  • NP_001395429.1:p.Glu358Asp
  • NP_001395430.1:p.Glu358Asp
  • NP_001395431.1:p.Glu357Asp
  • NP_001395432.1:p.Glu357Asp
  • NP_001395433.1:p.Glu357Asp
  • NP_001395434.1:p.Glu356Asp
  • NP_001395435.1:p.Glu337Asp
  • NP_001395436.1:p.Glu336Asp
  • NP_001395437.1:p.Glu333Asp
  • NP_001395438.1:p.Glu332Asp
  • NP_001395439.1:p.Glu319Asp
  • NP_001395440.1:p.Glu318Asp
  • NP_001395441.1:p.Glu278Asp
  • NP_009225.1:p.Glu1549Asp
  • NP_009225.1:p.Glu1549Asp
  • NP_009228.2:p.Glu1502Asp
  • NP_009229.2:p.Glu445Asp
  • NP_009229.2:p.Glu445Asp
  • NP_009230.2:p.Glu445Asp
  • NP_009231.2:p.Glu1570Asp
  • NP_009235.2:p.Glu445Asp
  • LRG_292t1:c.4647A>C
  • LRG_292:g.143625A>C
  • LRG_292p1:p.Glu1549Asp
  • NC_000017.10:g.41226376T>G
  • NM_007294.3:c.4647A>C
  • NM_007298.3:c.1335A>C
  • NR_027676.2:n.4824A>C
Protein change:
E1252D
Links:
dbSNP: rs1371814796
NCBI 1000 Genomes Browser:
rs1371814796
Molecular consequence:
  • NM_001407571.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4713A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4713A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4707A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4707A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4638A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4638A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4632A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4590A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4587A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4569A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4569A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4569A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4566A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4566A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4566A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4563A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4563A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4563A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4563A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4563A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4500A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4446A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4434A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4431A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4431A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4431A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4431A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4383A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4524A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4503A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4266A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4263A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4263A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4260A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4140A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3759A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2043A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2040A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1404A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1404A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1401A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1338A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1326A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1263A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1260A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1221A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1221A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1221A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1218A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1218A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1218A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1218A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1215A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1197A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1194A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1191A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1191A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1191A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1332A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1137A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1134A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1134A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1122A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1122A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1098A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1092A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1074A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1011A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1008A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.996A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.957A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.954A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.834A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1335A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4824A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000668461Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 16, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000668461.5

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

Description

The p.E1549D variant (also known as c.4647A>C), located in coding exon 13 of the BRCA1 gene, results from an A to C substitution at nucleotide position 4647. The glutamic acid at codon 1549 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024