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NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Benign (3 submissions)
Last evaluated:
Jan 30, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000048612.27

Allele description [Variation Report for NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)]

NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)

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.4636G>A (p.Asp1546Asn)
Other names:
p.D1546N:GAT>AAT; 4755G>A; NP_009225.1:p.Asp1546Asn
HGVS:
  • NC_000017.11:g.43074370C>T
  • NG_005905.2:g.143614G>A
  • NM_001407571.1:c.4423G>A
  • NM_001407581.1:c.4702G>A
  • NM_001407582.1:c.4702G>A
  • NM_001407583.1:c.4699G>A
  • NM_001407585.1:c.4699G>A
  • NM_001407587.1:c.4699G>A
  • NM_001407590.1:c.4696G>A
  • NM_001407591.1:c.4696G>A
  • NM_001407593.1:c.4636G>A
  • NM_001407594.1:c.4636G>A
  • NM_001407596.1:c.4636G>A
  • NM_001407597.1:c.4636G>A
  • NM_001407598.1:c.4636G>A
  • NM_001407602.1:c.4636G>A
  • NM_001407603.1:c.4636G>A
  • NM_001407605.1:c.4636G>A
  • NM_001407610.1:c.4633G>A
  • NM_001407611.1:c.4633G>A
  • NM_001407612.1:c.4633G>A
  • NM_001407613.1:c.4633G>A
  • NM_001407614.1:c.4633G>A
  • NM_001407615.1:c.4633G>A
  • NM_001407616.1:c.4633G>A
  • NM_001407617.1:c.4633G>A
  • NM_001407618.1:c.4633G>A
  • NM_001407619.1:c.4633G>A
  • NM_001407620.1:c.4633G>A
  • NM_001407621.1:c.4633G>A
  • NM_001407622.1:c.4633G>A
  • NM_001407623.1:c.4633G>A
  • NM_001407624.1:c.4633G>A
  • NM_001407625.1:c.4633G>A
  • NM_001407626.1:c.4633G>A
  • NM_001407627.1:c.4630G>A
  • NM_001407628.1:c.4630G>A
  • NM_001407629.1:c.4630G>A
  • NM_001407630.1:c.4630G>A
  • NM_001407631.1:c.4630G>A
  • NM_001407632.1:c.4630G>A
  • NM_001407633.1:c.4630G>A
  • NM_001407634.1:c.4630G>A
  • NM_001407635.1:c.4630G>A
  • NM_001407636.1:c.4630G>A
  • NM_001407637.1:c.4630G>A
  • NM_001407638.1:c.4630G>A
  • NM_001407639.1:c.4630G>A
  • NM_001407640.1:c.4630G>A
  • NM_001407641.1:c.4630G>A
  • NM_001407642.1:c.4630G>A
  • NM_001407644.1:c.4627G>A
  • NM_001407645.1:c.4627G>A
  • NM_001407646.1:c.4624G>A
  • NM_001407647.1:c.4621G>A
  • NM_001407648.1:c.4579G>A
  • NM_001407649.1:c.4576G>A
  • NM_001407652.1:c.4636G>A
  • NM_001407653.1:c.4558G>A
  • NM_001407654.1:c.4558G>A
  • NM_001407655.1:c.4558G>A
  • NM_001407656.1:c.4555G>A
  • NM_001407657.1:c.4555G>A
  • NM_001407658.1:c.4555G>A
  • NM_001407659.1:c.4552G>A
  • NM_001407660.1:c.4552G>A
  • NM_001407661.1:c.4552G>A
  • NM_001407662.1:c.4552G>A
  • NM_001407663.1:c.4552G>A
  • NM_001407664.1:c.4513G>A
  • NM_001407665.1:c.4513G>A
  • NM_001407666.1:c.4513G>A
  • NM_001407667.1:c.4513G>A
  • NM_001407668.1:c.4513G>A
  • NM_001407669.1:c.4513G>A
  • NM_001407670.1:c.4510G>A
  • NM_001407671.1:c.4510G>A
  • NM_001407672.1:c.4510G>A
  • NM_001407673.1:c.4510G>A
  • NM_001407674.1:c.4510G>A
  • NM_001407675.1:c.4510G>A
  • NM_001407676.1:c.4510G>A
  • NM_001407677.1:c.4510G>A
  • NM_001407678.1:c.4510G>A
  • NM_001407679.1:c.4510G>A
  • NM_001407680.1:c.4510G>A
  • NM_001407681.1:c.4507G>A
  • NM_001407682.1:c.4507G>A
  • NM_001407683.1:c.4507G>A
  • NM_001407684.1:c.4636G>A
  • NM_001407685.1:c.4507G>A
  • NM_001407686.1:c.4507G>A
  • NM_001407687.1:c.4507G>A
  • NM_001407688.1:c.4507G>A
  • NM_001407689.1:c.4507G>A
  • NM_001407690.1:c.4504G>A
  • NM_001407691.1:c.4504G>A
  • NM_001407692.1:c.4495G>A
  • NM_001407694.1:c.4495G>A
  • NM_001407695.1:c.4495G>A
  • NM_001407696.1:c.4495G>A
  • NM_001407697.1:c.4495G>A
  • NM_001407698.1:c.4495G>A
  • NM_001407724.1:c.4495G>A
  • NM_001407725.1:c.4495G>A
  • NM_001407726.1:c.4495G>A
  • NM_001407727.1:c.4495G>A
  • NM_001407728.1:c.4495G>A
  • NM_001407729.1:c.4495G>A
  • NM_001407730.1:c.4495G>A
  • NM_001407731.1:c.4495G>A
  • NM_001407732.1:c.4492G>A
  • NM_001407733.1:c.4492G>A
  • NM_001407734.1:c.4492G>A
  • NM_001407735.1:c.4492G>A
  • NM_001407736.1:c.4492G>A
  • NM_001407737.1:c.4492G>A
  • NM_001407738.1:c.4492G>A
  • NM_001407739.1:c.4492G>A
  • NM_001407740.1:c.4492G>A
  • NM_001407741.1:c.4492G>A
  • NM_001407742.1:c.4492G>A
  • NM_001407743.1:c.4492G>A
  • NM_001407744.1:c.4492G>A
  • NM_001407745.1:c.4492G>A
  • NM_001407746.1:c.4492G>A
  • NM_001407747.1:c.4492G>A
  • NM_001407748.1:c.4492G>A
  • NM_001407749.1:c.4492G>A
  • NM_001407750.1:c.4492G>A
  • NM_001407751.1:c.4492G>A
  • NM_001407752.1:c.4492G>A
  • NM_001407838.1:c.4489G>A
  • NM_001407839.1:c.4489G>A
  • NM_001407841.1:c.4489G>A
  • NM_001407842.1:c.4489G>A
  • NM_001407843.1:c.4489G>A
  • NM_001407844.1:c.4489G>A
  • NM_001407845.1:c.4489G>A
  • NM_001407846.1:c.4489G>A
  • NM_001407847.1:c.4489G>A
  • NM_001407848.1:c.4489G>A
  • NM_001407849.1:c.4489G>A
  • NM_001407850.1:c.4489G>A
  • NM_001407851.1:c.4489G>A
  • NM_001407852.1:c.4489G>A
  • NM_001407853.1:c.4489G>A
  • NM_001407854.1:c.4636G>A
  • NM_001407858.1:c.4633G>A
  • NM_001407859.1:c.4633G>A
  • NM_001407860.1:c.4633G>A
  • NM_001407861.1:c.4630G>A
  • NM_001407862.1:c.4435G>A
  • NM_001407863.1:c.4510G>A
  • NM_001407874.1:c.4429G>A
  • NM_001407875.1:c.4429G>A
  • NM_001407879.1:c.4426G>A
  • NM_001407881.1:c.4426G>A
  • NM_001407882.1:c.4426G>A
  • NM_001407884.1:c.4426G>A
  • NM_001407885.1:c.4426G>A
  • NM_001407886.1:c.4426G>A
  • NM_001407887.1:c.4426G>A
  • NM_001407889.1:c.4426G>A
  • NM_001407894.1:c.4423G>A
  • NM_001407895.1:c.4423G>A
  • NM_001407896.1:c.4423G>A
  • NM_001407897.1:c.4423G>A
  • NM_001407898.1:c.4423G>A
  • NM_001407899.1:c.4423G>A
  • NM_001407900.1:c.4423G>A
  • NM_001407902.1:c.4423G>A
  • NM_001407904.1:c.4423G>A
  • NM_001407906.1:c.4423G>A
  • NM_001407907.1:c.4423G>A
  • NM_001407908.1:c.4423G>A
  • NM_001407909.1:c.4423G>A
  • NM_001407910.1:c.4423G>A
  • NM_001407915.1:c.4420G>A
  • NM_001407916.1:c.4420G>A
  • NM_001407917.1:c.4420G>A
  • NM_001407918.1:c.4420G>A
  • NM_001407919.1:c.4513G>A
  • NM_001407920.1:c.4372G>A
  • NM_001407921.1:c.4372G>A
  • NM_001407922.1:c.4372G>A
  • NM_001407923.1:c.4372G>A
  • NM_001407924.1:c.4372G>A
  • NM_001407925.1:c.4372G>A
  • NM_001407926.1:c.4372G>A
  • NM_001407927.1:c.4369G>A
  • NM_001407928.1:c.4369G>A
  • NM_001407929.1:c.4369G>A
  • NM_001407930.1:c.4369G>A
  • NM_001407931.1:c.4369G>A
  • NM_001407932.1:c.4369G>A
  • NM_001407933.1:c.4369G>A
  • NM_001407934.1:c.4366G>A
  • NM_001407935.1:c.4366G>A
  • NM_001407936.1:c.4366G>A
  • NM_001407937.1:c.4513G>A
  • NM_001407938.1:c.4513G>A
  • NM_001407939.1:c.4510G>A
  • NM_001407940.1:c.4510G>A
  • NM_001407941.1:c.4507G>A
  • NM_001407942.1:c.4495G>A
  • NM_001407943.1:c.4492G>A
  • NM_001407944.1:c.4492G>A
  • NM_001407945.1:c.4492G>A
  • NM_001407946.1:c.4303G>A
  • NM_001407947.1:c.4303G>A
  • NM_001407948.1:c.4303G>A
  • NM_001407949.1:c.4303G>A
  • NM_001407950.1:c.4300G>A
  • NM_001407951.1:c.4300G>A
  • NM_001407952.1:c.4300G>A
  • NM_001407953.1:c.4300G>A
  • NM_001407954.1:c.4300G>A
  • NM_001407955.1:c.4300G>A
  • NM_001407956.1:c.4297G>A
  • NM_001407957.1:c.4297G>A
  • NM_001407958.1:c.4297G>A
  • NM_001407959.1:c.4255G>A
  • NM_001407960.1:c.4252G>A
  • NM_001407962.1:c.4252G>A
  • NM_001407963.1:c.4249G>A
  • NM_001407965.1:c.4129G>A
  • NM_001407966.1:c.3748G>A
  • NM_001407967.1:c.3745G>A
  • NM_001407968.1:c.2032G>A
  • NM_001407969.1:c.2029G>A
  • NM_001407970.1:c.1393G>A
  • NM_001407971.1:c.1393G>A
  • NM_001407972.1:c.1390G>A
  • NM_001407973.1:c.1327G>A
  • NM_001407974.1:c.1327G>A
  • NM_001407975.1:c.1327G>A
  • NM_001407976.1:c.1327G>A
  • NM_001407977.1:c.1327G>A
  • NM_001407978.1:c.1327G>A
  • NM_001407979.1:c.1324G>A
  • NM_001407980.1:c.1324G>A
  • NM_001407981.1:c.1324G>A
  • NM_001407982.1:c.1324G>A
  • NM_001407983.1:c.1324G>A
  • NM_001407984.1:c.1324G>A
  • NM_001407985.1:c.1324G>A
  • NM_001407986.1:c.1324G>A
  • NM_001407990.1:c.1324G>A
  • NM_001407991.1:c.1324G>A
  • NM_001407992.1:c.1324G>A
  • NM_001407993.1:c.1324G>A
  • NM_001408392.1:c.1321G>A
  • NM_001408396.1:c.1321G>A
  • NM_001408397.1:c.1321G>A
  • NM_001408398.1:c.1321G>A
  • NM_001408399.1:c.1321G>A
  • NM_001408400.1:c.1321G>A
  • NM_001408401.1:c.1321G>A
  • NM_001408402.1:c.1321G>A
  • NM_001408403.1:c.1321G>A
  • NM_001408404.1:c.1321G>A
  • NM_001408406.1:c.1318G>A
  • NM_001408407.1:c.1318G>A
  • NM_001408408.1:c.1318G>A
  • NM_001408409.1:c.1315G>A
  • NM_001408410.1:c.1252G>A
  • NM_001408411.1:c.1249G>A
  • NM_001408412.1:c.1246G>A
  • NM_001408413.1:c.1246G>A
  • NM_001408414.1:c.1246G>A
  • NM_001408415.1:c.1246G>A
  • NM_001408416.1:c.1246G>A
  • NM_001408418.1:c.1210G>A
  • NM_001408419.1:c.1210G>A
  • NM_001408420.1:c.1210G>A
  • NM_001408421.1:c.1207G>A
  • NM_001408422.1:c.1207G>A
  • NM_001408423.1:c.1207G>A
  • NM_001408424.1:c.1207G>A
  • NM_001408425.1:c.1204G>A
  • NM_001408426.1:c.1204G>A
  • NM_001408427.1:c.1204G>A
  • NM_001408428.1:c.1204G>A
  • NM_001408429.1:c.1204G>A
  • NM_001408430.1:c.1204G>A
  • NM_001408431.1:c.1204G>A
  • NM_001408432.1:c.1201G>A
  • NM_001408433.1:c.1201G>A
  • NM_001408434.1:c.1201G>A
  • NM_001408435.1:c.1201G>A
  • NM_001408436.1:c.1201G>A
  • NM_001408437.1:c.1201G>A
  • NM_001408438.1:c.1201G>A
  • NM_001408439.1:c.1201G>A
  • NM_001408440.1:c.1201G>A
  • NM_001408441.1:c.1201G>A
  • NM_001408442.1:c.1201G>A
  • NM_001408443.1:c.1201G>A
  • NM_001408444.1:c.1201G>A
  • NM_001408445.1:c.1198G>A
  • NM_001408446.1:c.1198G>A
  • NM_001408447.1:c.1198G>A
  • NM_001408448.1:c.1198G>A
  • NM_001408450.1:c.1198G>A
  • NM_001408451.1:c.1192G>A
  • NM_001408452.1:c.1186G>A
  • NM_001408453.1:c.1186G>A
  • NM_001408454.1:c.1186G>A
  • NM_001408455.1:c.1186G>A
  • NM_001408456.1:c.1186G>A
  • NM_001408457.1:c.1186G>A
  • NM_001408458.1:c.1183G>A
  • NM_001408459.1:c.1183G>A
  • NM_001408460.1:c.1183G>A
  • NM_001408461.1:c.1183G>A
  • NM_001408462.1:c.1183G>A
  • NM_001408463.1:c.1183G>A
  • NM_001408464.1:c.1183G>A
  • NM_001408465.1:c.1183G>A
  • NM_001408466.1:c.1183G>A
  • NM_001408467.1:c.1183G>A
  • NM_001408468.1:c.1180G>A
  • NM_001408469.1:c.1180G>A
  • NM_001408470.1:c.1180G>A
  • NM_001408472.1:c.1324G>A
  • NM_001408473.1:c.1321G>A
  • NM_001408474.1:c.1126G>A
  • NM_001408475.1:c.1123G>A
  • NM_001408476.1:c.1123G>A
  • NM_001408478.1:c.1117G>A
  • NM_001408479.1:c.1117G>A
  • NM_001408480.1:c.1117G>A
  • NM_001408481.1:c.1114G>A
  • NM_001408482.1:c.1114G>A
  • NM_001408483.1:c.1114G>A
  • NM_001408484.1:c.1114G>A
  • NM_001408485.1:c.1114G>A
  • NM_001408489.1:c.1114G>A
  • NM_001408490.1:c.1114G>A
  • NM_001408491.1:c.1114G>A
  • NM_001408492.1:c.1111G>A
  • NM_001408493.1:c.1111G>A
  • NM_001408494.1:c.1087G>A
  • NM_001408495.1:c.1081G>A
  • NM_001408496.1:c.1063G>A
  • NM_001408497.1:c.1063G>A
  • NM_001408498.1:c.1063G>A
  • NM_001408499.1:c.1063G>A
  • NM_001408500.1:c.1063G>A
  • NM_001408501.1:c.1063G>A
  • NM_001408502.1:c.1060G>A
  • NM_001408503.1:c.1060G>A
  • NM_001408504.1:c.1060G>A
  • NM_001408505.1:c.1057G>A
  • NM_001408506.1:c.1000G>A
  • NM_001408507.1:c.997G>A
  • NM_001408508.1:c.988G>A
  • NM_001408509.1:c.985G>A
  • NM_001408510.1:c.946G>A
  • NM_001408511.1:c.943G>A
  • NM_001408512.1:c.823G>A
  • NM_007294.4:c.4636G>AMANE SELECT
  • NM_007297.4:c.4495G>A
  • NM_007298.4:c.1324G>A
  • NM_007299.4:c.1324G>A
  • NM_007300.4:c.4699G>A
  • NM_007304.2:c.1324G>A
  • NP_001394500.1:p.Asp1475Asn
  • NP_001394510.1:p.Asp1568Asn
  • NP_001394511.1:p.Asp1568Asn
  • NP_001394512.1:p.Asp1567Asn
  • NP_001394514.1:p.Asp1567Asn
  • NP_001394516.1:p.Asp1567Asn
  • NP_001394519.1:p.Asp1566Asn
  • NP_001394520.1:p.Asp1566Asn
  • NP_001394522.1:p.Asp1546Asn
  • NP_001394523.1:p.Asp1546Asn
  • NP_001394525.1:p.Asp1546Asn
  • NP_001394526.1:p.Asp1546Asn
  • NP_001394527.1:p.Asp1546Asn
  • NP_001394531.1:p.Asp1546Asn
  • NP_001394532.1:p.Asp1546Asn
  • NP_001394534.1:p.Asp1546Asn
  • NP_001394539.1:p.Asp1545Asn
  • NP_001394540.1:p.Asp1545Asn
  • NP_001394541.1:p.Asp1545Asn
  • NP_001394542.1:p.Asp1545Asn
  • NP_001394543.1:p.Asp1545Asn
  • NP_001394544.1:p.Asp1545Asn
  • NP_001394545.1:p.Asp1545Asn
  • NP_001394546.1:p.Asp1545Asn
  • NP_001394547.1:p.Asp1545Asn
  • NP_001394548.1:p.Asp1545Asn
  • NP_001394549.1:p.Asp1545Asn
  • NP_001394550.1:p.Asp1545Asn
  • NP_001394551.1:p.Asp1545Asn
  • NP_001394552.1:p.Asp1545Asn
  • NP_001394553.1:p.Asp1545Asn
  • NP_001394554.1:p.Asp1545Asn
  • NP_001394555.1:p.Asp1545Asn
  • NP_001394556.1:p.Asp1544Asn
  • NP_001394557.1:p.Asp1544Asn
  • NP_001394558.1:p.Asp1544Asn
  • NP_001394559.1:p.Asp1544Asn
  • NP_001394560.1:p.Asp1544Asn
  • NP_001394561.1:p.Asp1544Asn
  • NP_001394562.1:p.Asp1544Asn
  • NP_001394563.1:p.Asp1544Asn
  • NP_001394564.1:p.Asp1544Asn
  • NP_001394565.1:p.Asp1544Asn
  • NP_001394566.1:p.Asp1544Asn
  • NP_001394567.1:p.Asp1544Asn
  • NP_001394568.1:p.Asp1544Asn
  • NP_001394569.1:p.Asp1544Asn
  • NP_001394570.1:p.Asp1544Asn
  • NP_001394571.1:p.Asp1544Asn
  • NP_001394573.1:p.Asp1543Asn
  • NP_001394574.1:p.Asp1543Asn
  • NP_001394575.1:p.Asp1542Asn
  • NP_001394576.1:p.Asp1541Asn
  • NP_001394577.1:p.Asp1527Asn
  • NP_001394578.1:p.Asp1526Asn
  • NP_001394581.1:p.Asp1546Asn
  • NP_001394582.1:p.Asp1520Asn
  • NP_001394583.1:p.Asp1520Asn
  • NP_001394584.1:p.Asp1520Asn
  • NP_001394585.1:p.Asp1519Asn
  • NP_001394586.1:p.Asp1519Asn
  • NP_001394587.1:p.Asp1519Asn
  • NP_001394588.1:p.Asp1518Asn
  • NP_001394589.1:p.Asp1518Asn
  • NP_001394590.1:p.Asp1518Asn
  • NP_001394591.1:p.Asp1518Asn
  • NP_001394592.1:p.Asp1518Asn
  • NP_001394593.1:p.Asp1505Asn
  • NP_001394594.1:p.Asp1505Asn
  • NP_001394595.1:p.Asp1505Asn
  • NP_001394596.1:p.Asp1505Asn
  • NP_001394597.1:p.Asp1505Asn
  • NP_001394598.1:p.Asp1505Asn
  • NP_001394599.1:p.Asp1504Asn
  • NP_001394600.1:p.Asp1504Asn
  • NP_001394601.1:p.Asp1504Asn
  • NP_001394602.1:p.Asp1504Asn
  • NP_001394603.1:p.Asp1504Asn
  • NP_001394604.1:p.Asp1504Asn
  • NP_001394605.1:p.Asp1504Asn
  • NP_001394606.1:p.Asp1504Asn
  • NP_001394607.1:p.Asp1504Asn
  • NP_001394608.1:p.Asp1504Asn
  • NP_001394609.1:p.Asp1504Asn
  • NP_001394610.1:p.Asp1503Asn
  • NP_001394611.1:p.Asp1503Asn
  • NP_001394612.1:p.Asp1503Asn
  • NP_001394613.1:p.Asp1546Asn
  • NP_001394614.1:p.Asp1503Asn
  • NP_001394615.1:p.Asp1503Asn
  • NP_001394616.1:p.Asp1503Asn
  • NP_001394617.1:p.Asp1503Asn
  • NP_001394618.1:p.Asp1503Asn
  • NP_001394619.1:p.Asp1502Asn
  • NP_001394620.1:p.Asp1502Asn
  • NP_001394621.1:p.Asp1499Asn
  • NP_001394623.1:p.Asp1499Asn
  • NP_001394624.1:p.Asp1499Asn
  • NP_001394625.1:p.Asp1499Asn
  • NP_001394626.1:p.Asp1499Asn
  • NP_001394627.1:p.Asp1499Asn
  • NP_001394653.1:p.Asp1499Asn
  • NP_001394654.1:p.Asp1499Asn
  • NP_001394655.1:p.Asp1499Asn
  • NP_001394656.1:p.Asp1499Asn
  • NP_001394657.1:p.Asp1499Asn
  • NP_001394658.1:p.Asp1499Asn
  • NP_001394659.1:p.Asp1499Asn
  • NP_001394660.1:p.Asp1499Asn
  • NP_001394661.1:p.Asp1498Asn
  • NP_001394662.1:p.Asp1498Asn
  • NP_001394663.1:p.Asp1498Asn
  • NP_001394664.1:p.Asp1498Asn
  • NP_001394665.1:p.Asp1498Asn
  • NP_001394666.1:p.Asp1498Asn
  • NP_001394667.1:p.Asp1498Asn
  • NP_001394668.1:p.Asp1498Asn
  • NP_001394669.1:p.Asp1498Asn
  • NP_001394670.1:p.Asp1498Asn
  • NP_001394671.1:p.Asp1498Asn
  • NP_001394672.1:p.Asp1498Asn
  • NP_001394673.1:p.Asp1498Asn
  • NP_001394674.1:p.Asp1498Asn
  • NP_001394675.1:p.Asp1498Asn
  • NP_001394676.1:p.Asp1498Asn
  • NP_001394677.1:p.Asp1498Asn
  • NP_001394678.1:p.Asp1498Asn
  • NP_001394679.1:p.Asp1498Asn
  • NP_001394680.1:p.Asp1498Asn
  • NP_001394681.1:p.Asp1498Asn
  • NP_001394767.1:p.Asp1497Asn
  • NP_001394768.1:p.Asp1497Asn
  • NP_001394770.1:p.Asp1497Asn
  • NP_001394771.1:p.Asp1497Asn
  • NP_001394772.1:p.Asp1497Asn
  • NP_001394773.1:p.Asp1497Asn
  • NP_001394774.1:p.Asp1497Asn
  • NP_001394775.1:p.Asp1497Asn
  • NP_001394776.1:p.Asp1497Asn
  • NP_001394777.1:p.Asp1497Asn
  • NP_001394778.1:p.Asp1497Asn
  • NP_001394779.1:p.Asp1497Asn
  • NP_001394780.1:p.Asp1497Asn
  • NP_001394781.1:p.Asp1497Asn
  • NP_001394782.1:p.Asp1497Asn
  • NP_001394783.1:p.Asp1546Asn
  • NP_001394787.1:p.Asp1545Asn
  • NP_001394788.1:p.Asp1545Asn
  • NP_001394789.1:p.Asp1545Asn
  • NP_001394790.1:p.Asp1544Asn
  • NP_001394791.1:p.Asp1479Asn
  • NP_001394792.1:p.Asp1504Asn
  • NP_001394803.1:p.Asp1477Asn
  • NP_001394804.1:p.Asp1477Asn
  • NP_001394808.1:p.Asp1476Asn
  • NP_001394810.1:p.Asp1476Asn
  • NP_001394811.1:p.Asp1476Asn
  • NP_001394813.1:p.Asp1476Asn
  • NP_001394814.1:p.Asp1476Asn
  • NP_001394815.1:p.Asp1476Asn
  • NP_001394816.1:p.Asp1476Asn
  • NP_001394818.1:p.Asp1476Asn
  • NP_001394823.1:p.Asp1475Asn
  • NP_001394824.1:p.Asp1475Asn
  • NP_001394825.1:p.Asp1475Asn
  • NP_001394826.1:p.Asp1475Asn
  • NP_001394827.1:p.Asp1475Asn
  • NP_001394828.1:p.Asp1475Asn
  • NP_001394829.1:p.Asp1475Asn
  • NP_001394831.1:p.Asp1475Asn
  • NP_001394833.1:p.Asp1475Asn
  • NP_001394835.1:p.Asp1475Asn
  • NP_001394836.1:p.Asp1475Asn
  • NP_001394837.1:p.Asp1475Asn
  • NP_001394838.1:p.Asp1475Asn
  • NP_001394839.1:p.Asp1475Asn
  • NP_001394844.1:p.Asp1474Asn
  • NP_001394845.1:p.Asp1474Asn
  • NP_001394846.1:p.Asp1474Asn
  • NP_001394847.1:p.Asp1474Asn
  • NP_001394848.1:p.Asp1505Asn
  • NP_001394849.1:p.Asp1458Asn
  • NP_001394850.1:p.Asp1458Asn
  • NP_001394851.1:p.Asp1458Asn
  • NP_001394852.1:p.Asp1458Asn
  • NP_001394853.1:p.Asp1458Asn
  • NP_001394854.1:p.Asp1458Asn
  • NP_001394855.1:p.Asp1458Asn
  • NP_001394856.1:p.Asp1457Asn
  • NP_001394857.1:p.Asp1457Asn
  • NP_001394858.1:p.Asp1457Asn
  • NP_001394859.1:p.Asp1457Asn
  • NP_001394860.1:p.Asp1457Asn
  • NP_001394861.1:p.Asp1457Asn
  • NP_001394862.1:p.Asp1457Asn
  • NP_001394863.1:p.Asp1456Asn
  • NP_001394864.1:p.Asp1456Asn
  • NP_001394865.1:p.Asp1456Asn
  • NP_001394866.1:p.Asp1505Asn
  • NP_001394867.1:p.Asp1505Asn
  • NP_001394868.1:p.Asp1504Asn
  • NP_001394869.1:p.Asp1504Asn
  • NP_001394870.1:p.Asp1503Asn
  • NP_001394871.1:p.Asp1499Asn
  • NP_001394872.1:p.Asp1498Asn
  • NP_001394873.1:p.Asp1498Asn
  • NP_001394874.1:p.Asp1498Asn
  • NP_001394875.1:p.Asp1435Asn
  • NP_001394876.1:p.Asp1435Asn
  • NP_001394877.1:p.Asp1435Asn
  • NP_001394878.1:p.Asp1435Asn
  • NP_001394879.1:p.Asp1434Asn
  • NP_001394880.1:p.Asp1434Asn
  • NP_001394881.1:p.Asp1434Asn
  • NP_001394882.1:p.Asp1434Asn
  • NP_001394883.1:p.Asp1434Asn
  • NP_001394884.1:p.Asp1434Asn
  • NP_001394885.1:p.Asp1433Asn
  • NP_001394886.1:p.Asp1433Asn
  • NP_001394887.1:p.Asp1433Asn
  • NP_001394888.1:p.Asp1419Asn
  • NP_001394889.1:p.Asp1418Asn
  • NP_001394891.1:p.Asp1418Asn
  • NP_001394892.1:p.Asp1417Asn
  • NP_001394894.1:p.Asp1377Asn
  • NP_001394895.1:p.Asp1250Asn
  • NP_001394896.1:p.Asp1249Asn
  • NP_001394897.1:p.Asp678Asn
  • NP_001394898.1:p.Asp677Asn
  • NP_001394899.1:p.Asp465Asn
  • NP_001394900.1:p.Asp465Asn
  • NP_001394901.1:p.Asp464Asn
  • NP_001394902.1:p.Asp443Asn
  • NP_001394903.1:p.Asp443Asn
  • NP_001394904.1:p.Asp443Asn
  • NP_001394905.1:p.Asp443Asn
  • NP_001394906.1:p.Asp443Asn
  • NP_001394907.1:p.Asp443Asn
  • NP_001394908.1:p.Asp442Asn
  • NP_001394909.1:p.Asp442Asn
  • NP_001394910.1:p.Asp442Asn
  • NP_001394911.1:p.Asp442Asn
  • NP_001394912.1:p.Asp442Asn
  • NP_001394913.1:p.Asp442Asn
  • NP_001394914.1:p.Asp442Asn
  • NP_001394915.1:p.Asp442Asn
  • NP_001394919.1:p.Asp442Asn
  • NP_001394920.1:p.Asp442Asn
  • NP_001394921.1:p.Asp442Asn
  • NP_001394922.1:p.Asp442Asn
  • NP_001395321.1:p.Asp441Asn
  • NP_001395325.1:p.Asp441Asn
  • NP_001395326.1:p.Asp441Asn
  • NP_001395327.1:p.Asp441Asn
  • NP_001395328.1:p.Asp441Asn
  • NP_001395329.1:p.Asp441Asn
  • NP_001395330.1:p.Asp441Asn
  • NP_001395331.1:p.Asp441Asn
  • NP_001395332.1:p.Asp441Asn
  • NP_001395333.1:p.Asp441Asn
  • NP_001395335.1:p.Asp440Asn
  • NP_001395336.1:p.Asp440Asn
  • NP_001395337.1:p.Asp440Asn
  • NP_001395338.1:p.Asp439Asn
  • NP_001395339.1:p.Asp418Asn
  • NP_001395340.1:p.Asp417Asn
  • NP_001395341.1:p.Asp416Asn
  • NP_001395342.1:p.Asp416Asn
  • NP_001395343.1:p.Asp416Asn
  • NP_001395344.1:p.Asp416Asn
  • NP_001395345.1:p.Asp416Asn
  • NP_001395347.1:p.Asp404Asn
  • NP_001395348.1:p.Asp404Asn
  • NP_001395349.1:p.Asp404Asn
  • NP_001395350.1:p.Asp403Asn
  • NP_001395351.1:p.Asp403Asn
  • NP_001395352.1:p.Asp403Asn
  • NP_001395353.1:p.Asp403Asn
  • NP_001395354.1:p.Asp402Asn
  • NP_001395355.1:p.Asp402Asn
  • NP_001395356.1:p.Asp402Asn
  • NP_001395357.1:p.Asp402Asn
  • NP_001395358.1:p.Asp402Asn
  • NP_001395359.1:p.Asp402Asn
  • NP_001395360.1:p.Asp402Asn
  • NP_001395361.1:p.Asp401Asn
  • NP_001395362.1:p.Asp401Asn
  • NP_001395363.1:p.Asp401Asn
  • NP_001395364.1:p.Asp401Asn
  • NP_001395365.1:p.Asp401Asn
  • NP_001395366.1:p.Asp401Asn
  • NP_001395367.1:p.Asp401Asn
  • NP_001395368.1:p.Asp401Asn
  • NP_001395369.1:p.Asp401Asn
  • NP_001395370.1:p.Asp401Asn
  • NP_001395371.1:p.Asp401Asn
  • NP_001395372.1:p.Asp401Asn
  • NP_001395373.1:p.Asp401Asn
  • NP_001395374.1:p.Asp400Asn
  • NP_001395375.1:p.Asp400Asn
  • NP_001395376.1:p.Asp400Asn
  • NP_001395377.1:p.Asp400Asn
  • NP_001395379.1:p.Asp400Asn
  • NP_001395380.1:p.Asp398Asn
  • NP_001395381.1:p.Asp396Asn
  • NP_001395382.1:p.Asp396Asn
  • NP_001395383.1:p.Asp396Asn
  • NP_001395384.1:p.Asp396Asn
  • NP_001395385.1:p.Asp396Asn
  • NP_001395386.1:p.Asp396Asn
  • NP_001395387.1:p.Asp395Asn
  • NP_001395388.1:p.Asp395Asn
  • NP_001395389.1:p.Asp395Asn
  • NP_001395390.1:p.Asp395Asn
  • NP_001395391.1:p.Asp395Asn
  • NP_001395392.1:p.Asp395Asn
  • NP_001395393.1:p.Asp395Asn
  • NP_001395394.1:p.Asp395Asn
  • NP_001395395.1:p.Asp395Asn
  • NP_001395396.1:p.Asp395Asn
  • NP_001395397.1:p.Asp394Asn
  • NP_001395398.1:p.Asp394Asn
  • NP_001395399.1:p.Asp394Asn
  • NP_001395401.1:p.Asp442Asn
  • NP_001395402.1:p.Asp441Asn
  • NP_001395403.1:p.Asp376Asn
  • NP_001395404.1:p.Asp375Asn
  • NP_001395405.1:p.Asp375Asn
  • NP_001395407.1:p.Asp373Asn
  • NP_001395408.1:p.Asp373Asn
  • NP_001395409.1:p.Asp373Asn
  • NP_001395410.1:p.Asp372Asn
  • NP_001395411.1:p.Asp372Asn
  • NP_001395412.1:p.Asp372Asn
  • NP_001395413.1:p.Asp372Asn
  • NP_001395414.1:p.Asp372Asn
  • NP_001395418.1:p.Asp372Asn
  • NP_001395419.1:p.Asp372Asn
  • NP_001395420.1:p.Asp372Asn
  • NP_001395421.1:p.Asp371Asn
  • NP_001395422.1:p.Asp371Asn
  • NP_001395423.1:p.Asp363Asn
  • NP_001395424.1:p.Asp361Asn
  • NP_001395425.1:p.Asp355Asn
  • NP_001395426.1:p.Asp355Asn
  • NP_001395427.1:p.Asp355Asn
  • NP_001395428.1:p.Asp355Asn
  • NP_001395429.1:p.Asp355Asn
  • NP_001395430.1:p.Asp355Asn
  • NP_001395431.1:p.Asp354Asn
  • NP_001395432.1:p.Asp354Asn
  • NP_001395433.1:p.Asp354Asn
  • NP_001395434.1:p.Asp353Asn
  • NP_001395435.1:p.Asp334Asn
  • NP_001395436.1:p.Asp333Asn
  • NP_001395437.1:p.Asp330Asn
  • NP_001395438.1:p.Asp329Asn
  • NP_001395439.1:p.Asp316Asn
  • NP_001395440.1:p.Asp315Asn
  • NP_001395441.1:p.Asp275Asn
  • NP_009225.1:p.Asp1546Asn
  • NP_009225.1:p.Asp1546Asn
  • NP_009228.2:p.Asp1499Asn
  • NP_009229.2:p.Asp442Asn
  • NP_009229.2:p.Asp442Asn
  • NP_009230.2:p.Asp442Asn
  • NP_009231.2:p.Asp1567Asn
  • NP_009235.2:p.Asp442Asn
  • LRG_292t1:c.4636G>A
  • LRG_292:g.143614G>A
  • LRG_292p1:p.Asp1546Asn
  • NC_000017.10:g.41226387C>T
  • NM_007294.3:c.4636G>A
  • NM_007294.4:c.4636G>A
  • NM_007298.3:c.1324G>A
  • NM_007299.3:c.1324G>A
  • NM_007300.3:c.4699G>A
  • NR_027676.2:n.4813G>A
  • U14680.1:n.4755G>A
  • p.D1546N
Protein change:
D1249N
Links:
BRCA1-HCI: BRCA1_00022; dbSNP: rs28897691
NCBI 1000 Genomes Browser:
rs28897691
Molecular consequence:
  • NM_001407571.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4627G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4627G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4579G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4576G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4504G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4504G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4435G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4429G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4429G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4249G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4129G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2032G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1192G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4813G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000076625Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 30, 2024) 		germlineclinical testing

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

SCV002025930National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 16, 2021) 		germlineclinical testing

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

SCV004228047Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076625.16

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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002025930.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV004228047.1

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

Last Updated: Nov 10, 2024