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NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) AND Malignant tumor of breast

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353447.9

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:
1

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591529Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Benignunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591529.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Asp1646Asn variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs28897691) and EVS as a low frequency variant, and is reported as benign in XXX# publications (${MatchVariant_1_ReferenceSummary}).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024