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NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Apr 11, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000164913.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)]

NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
HGVS:
  • NC_000017.11:g.43092284T>G
  • NG_005905.2:g.125700A>C
  • NG_087068.1:g.1266T>G
  • NM_001407571.1:c.3034A>C
  • NM_001407581.1:c.3247A>C
  • NM_001407582.1:c.3247A>C
  • NM_001407583.1:c.3247A>C
  • NM_001407585.1:c.3247A>C
  • NM_001407587.1:c.3244A>C
  • NM_001407590.1:c.3244A>C
  • NM_001407591.1:c.3244A>C
  • NM_001407593.1:c.3247A>C
  • NM_001407594.1:c.3247A>C
  • NM_001407596.1:c.3247A>C
  • NM_001407597.1:c.3247A>C
  • NM_001407598.1:c.3247A>C
  • NM_001407602.1:c.3247A>C
  • NM_001407603.1:c.3247A>C
  • NM_001407605.1:c.3247A>C
  • NM_001407610.1:c.3244A>C
  • NM_001407611.1:c.3244A>C
  • NM_001407612.1:c.3244A>C
  • NM_001407613.1:c.3244A>C
  • NM_001407614.1:c.3244A>C
  • NM_001407615.1:c.3244A>C
  • NM_001407616.1:c.3247A>C
  • NM_001407617.1:c.3247A>C
  • NM_001407618.1:c.3247A>C
  • NM_001407619.1:c.3247A>C
  • NM_001407620.1:c.3247A>C
  • NM_001407621.1:c.3247A>C
  • NM_001407622.1:c.3247A>C
  • NM_001407623.1:c.3247A>C
  • NM_001407624.1:c.3247A>C
  • NM_001407625.1:c.3247A>C
  • NM_001407626.1:c.3247A>C
  • NM_001407627.1:c.3244A>C
  • NM_001407628.1:c.3244A>C
  • NM_001407629.1:c.3244A>C
  • NM_001407630.1:c.3244A>C
  • NM_001407631.1:c.3244A>C
  • NM_001407632.1:c.3244A>C
  • NM_001407633.1:c.3244A>C
  • NM_001407634.1:c.3244A>C
  • NM_001407635.1:c.3244A>C
  • NM_001407636.1:c.3244A>C
  • NM_001407637.1:c.3244A>C
  • NM_001407638.1:c.3244A>C
  • NM_001407639.1:c.3247A>C
  • NM_001407640.1:c.3247A>C
  • NM_001407641.1:c.3247A>C
  • NM_001407642.1:c.3247A>C
  • NM_001407644.1:c.3244A>C
  • NM_001407645.1:c.3244A>C
  • NM_001407646.1:c.3238A>C
  • NM_001407647.1:c.3238A>C
  • NM_001407648.1:c.3124A>C
  • NM_001407649.1:c.3121A>C
  • NM_001407652.1:c.3247A>C
  • NM_001407653.1:c.3169A>C
  • NM_001407654.1:c.3169A>C
  • NM_001407655.1:c.3169A>C
  • NM_001407656.1:c.3169A>C
  • NM_001407657.1:c.3169A>C
  • NM_001407658.1:c.3169A>C
  • NM_001407659.1:c.3166A>C
  • NM_001407660.1:c.3166A>C
  • NM_001407661.1:c.3166A>C
  • NM_001407662.1:c.3166A>C
  • NM_001407663.1:c.3169A>C
  • NM_001407664.1:c.3124A>C
  • NM_001407665.1:c.3124A>C
  • NM_001407666.1:c.3124A>C
  • NM_001407667.1:c.3124A>C
  • NM_001407668.1:c.3124A>C
  • NM_001407669.1:c.3124A>C
  • NM_001407670.1:c.3121A>C
  • NM_001407671.1:c.3121A>C
  • NM_001407672.1:c.3121A>C
  • NM_001407673.1:c.3121A>C
  • NM_001407674.1:c.3124A>C
  • NM_001407675.1:c.3124A>C
  • NM_001407676.1:c.3124A>C
  • NM_001407677.1:c.3124A>C
  • NM_001407678.1:c.3124A>C
  • NM_001407679.1:c.3124A>C
  • NM_001407680.1:c.3124A>C
  • NM_001407681.1:c.3124A>C
  • NM_001407682.1:c.3124A>C
  • NM_001407683.1:c.3124A>C
  • NM_001407684.1:c.3247A>C
  • NM_001407685.1:c.3121A>C
  • NM_001407686.1:c.3121A>C
  • NM_001407687.1:c.3121A>C
  • NM_001407688.1:c.3121A>C
  • NM_001407689.1:c.3121A>C
  • NM_001407690.1:c.3121A>C
  • NM_001407691.1:c.3121A>C
  • NM_001407692.1:c.3106A>C
  • NM_001407694.1:c.3106A>C
  • NM_001407695.1:c.3106A>C
  • NM_001407696.1:c.3106A>C
  • NM_001407697.1:c.3106A>C
  • NM_001407698.1:c.3106A>C
  • NM_001407724.1:c.3106A>C
  • NM_001407725.1:c.3106A>C
  • NM_001407726.1:c.3106A>C
  • NM_001407727.1:c.3106A>C
  • NM_001407728.1:c.3106A>C
  • NM_001407729.1:c.3106A>C
  • NM_001407730.1:c.3106A>C
  • NM_001407731.1:c.3106A>C
  • NM_001407732.1:c.3106A>C
  • NM_001407733.1:c.3106A>C
  • NM_001407734.1:c.3106A>C
  • NM_001407735.1:c.3106A>C
  • NM_001407736.1:c.3106A>C
  • NM_001407737.1:c.3106A>C
  • NM_001407738.1:c.3106A>C
  • NM_001407739.1:c.3106A>C
  • NM_001407740.1:c.3103A>C
  • NM_001407741.1:c.3103A>C
  • NM_001407742.1:c.3103A>C
  • NM_001407743.1:c.3103A>C
  • NM_001407744.1:c.3103A>C
  • NM_001407745.1:c.3103A>C
  • NM_001407746.1:c.3103A>C
  • NM_001407747.1:c.3103A>C
  • NM_001407748.1:c.3103A>C
  • NM_001407749.1:c.3103A>C
  • NM_001407750.1:c.3106A>C
  • NM_001407751.1:c.3106A>C
  • NM_001407752.1:c.3106A>C
  • NM_001407838.1:c.3103A>C
  • NM_001407839.1:c.3103A>C
  • NM_001407841.1:c.3103A>C
  • NM_001407842.1:c.3103A>C
  • NM_001407843.1:c.3103A>C
  • NM_001407844.1:c.3103A>C
  • NM_001407845.1:c.3103A>C
  • NM_001407846.1:c.3103A>C
  • NM_001407847.1:c.3103A>C
  • NM_001407848.1:c.3103A>C
  • NM_001407849.1:c.3103A>C
  • NM_001407850.1:c.3106A>C
  • NM_001407851.1:c.3106A>C
  • NM_001407852.1:c.3106A>C
  • NM_001407853.1:c.3034A>C
  • NM_001407854.1:c.3247A>C
  • NM_001407858.1:c.3247A>C
  • NM_001407859.1:c.3247A>C
  • NM_001407860.1:c.3244A>C
  • NM_001407861.1:c.3244A>C
  • NM_001407862.1:c.3046A>C
  • NM_001407863.1:c.3124A>C
  • NM_001407874.1:c.3043A>C
  • NM_001407875.1:c.3043A>C
  • NM_001407879.1:c.3037A>C
  • NM_001407881.1:c.3037A>C
  • NM_001407882.1:c.3037A>C
  • NM_001407884.1:c.3037A>C
  • NM_001407885.1:c.3037A>C
  • NM_001407886.1:c.3037A>C
  • NM_001407887.1:c.3037A>C
  • NM_001407889.1:c.3037A>C
  • NM_001407894.1:c.3034A>C
  • NM_001407895.1:c.3034A>C
  • NM_001407896.1:c.3034A>C
  • NM_001407897.1:c.3034A>C
  • NM_001407898.1:c.3034A>C
  • NM_001407899.1:c.3034A>C
  • NM_001407900.1:c.3037A>C
  • NM_001407902.1:c.3037A>C
  • NM_001407904.1:c.3037A>C
  • NM_001407906.1:c.3037A>C
  • NM_001407907.1:c.3037A>C
  • NM_001407908.1:c.3037A>C
  • NM_001407909.1:c.3037A>C
  • NM_001407910.1:c.3037A>C
  • NM_001407915.1:c.3034A>C
  • NM_001407916.1:c.3034A>C
  • NM_001407917.1:c.3034A>C
  • NM_001407918.1:c.3034A>C
  • NM_001407919.1:c.3124A>C
  • NM_001407920.1:c.2983A>C
  • NM_001407921.1:c.2983A>C
  • NM_001407922.1:c.2983A>C
  • NM_001407923.1:c.2983A>C
  • NM_001407924.1:c.2983A>C
  • NM_001407925.1:c.2983A>C
  • NM_001407926.1:c.2983A>C
  • NM_001407927.1:c.2983A>C
  • NM_001407928.1:c.2983A>C
  • NM_001407929.1:c.2983A>C
  • NM_001407930.1:c.2980A>C
  • NM_001407931.1:c.2980A>C
  • NM_001407932.1:c.2980A>C
  • NM_001407933.1:c.2983A>C
  • NM_001407934.1:c.2980A>C
  • NM_001407935.1:c.2983A>C
  • NM_001407936.1:c.2980A>C
  • NM_001407937.1:c.3124A>C
  • NM_001407938.1:c.3124A>C
  • NM_001407939.1:c.3124A>C
  • NM_001407940.1:c.3121A>C
  • NM_001407941.1:c.3121A>C
  • NM_001407942.1:c.3106A>C
  • NM_001407943.1:c.3103A>C
  • NM_001407944.1:c.3106A>C
  • NM_001407945.1:c.3106A>C
  • NM_001407946.1:c.2914A>C
  • NM_001407947.1:c.2914A>C
  • NM_001407948.1:c.2914A>C
  • NM_001407949.1:c.2914A>C
  • NM_001407950.1:c.2914A>C
  • NM_001407951.1:c.2914A>C
  • NM_001407952.1:c.2914A>C
  • NM_001407953.1:c.2914A>C
  • NM_001407954.1:c.2911A>C
  • NM_001407955.1:c.2911A>C
  • NM_001407956.1:c.2911A>C
  • NM_001407957.1:c.2914A>C
  • NM_001407958.1:c.2911A>C
  • NM_001407959.1:c.2866A>C
  • NM_001407960.1:c.2866A>C
  • NM_001407962.1:c.2863A>C
  • NM_001407963.1:c.2866A>C
  • NM_001407964.1:c.3103A>C
  • NM_001407965.1:c.2743A>C
  • NM_001407966.1:c.2359A>C
  • NM_001407967.1:c.2359A>C
  • NM_001407968.1:c.788-145A>C
  • NM_001407969.1:c.788-145A>C
  • NM_001407970.1:c.788-1252A>C
  • NM_001407971.1:c.788-1252A>C
  • NM_001407972.1:c.785-1252A>C
  • NM_001407973.1:c.788-1252A>C
  • NM_001407974.1:c.788-1252A>C
  • NM_001407975.1:c.788-1252A>C
  • NM_001407976.1:c.788-1252A>C
  • NM_001407977.1:c.788-1252A>C
  • NM_001407978.1:c.788-1252A>C
  • NM_001407979.1:c.788-1252A>C
  • NM_001407980.1:c.788-1252A>C
  • NM_001407981.1:c.788-1252A>C
  • NM_001407982.1:c.788-1252A>C
  • NM_001407983.1:c.788-1252A>C
  • NM_001407984.1:c.785-1252A>C
  • NM_001407985.1:c.785-1252A>C
  • NM_001407986.1:c.785-1252A>C
  • NM_001407990.1:c.788-1252A>C
  • NM_001407991.1:c.785-1252A>C
  • NM_001407992.1:c.785-1252A>C
  • NM_001407993.1:c.788-1252A>C
  • NM_001408392.1:c.785-1252A>C
  • NM_001408396.1:c.785-1252A>C
  • NM_001408397.1:c.785-1252A>C
  • NM_001408398.1:c.785-1252A>C
  • NM_001408399.1:c.785-1252A>C
  • NM_001408400.1:c.785-1252A>C
  • NM_001408401.1:c.785-1252A>C
  • NM_001408402.1:c.785-1252A>C
  • NM_001408403.1:c.788-1252A>C
  • NM_001408404.1:c.788-1252A>C
  • NM_001408406.1:c.791-1261A>C
  • NM_001408407.1:c.785-1252A>C
  • NM_001408408.1:c.779-1252A>C
  • NM_001408409.1:c.710-1252A>C
  • NM_001408410.1:c.647-1252A>C
  • NM_001408411.1:c.710-1252A>C
  • NM_001408412.1:c.710-1252A>C
  • NM_001408413.1:c.707-1252A>C
  • NM_001408414.1:c.710-1252A>C
  • NM_001408415.1:c.710-1252A>C
  • NM_001408416.1:c.707-1252A>C
  • NM_001408418.1:c.671-1252A>C
  • NM_001408419.1:c.671-1252A>C
  • NM_001408420.1:c.671-1252A>C
  • NM_001408421.1:c.668-1252A>C
  • NM_001408422.1:c.671-1252A>C
  • NM_001408423.1:c.671-1252A>C
  • NM_001408424.1:c.668-1252A>C
  • NM_001408425.1:c.665-1252A>C
  • NM_001408426.1:c.665-1252A>C
  • NM_001408427.1:c.665-1252A>C
  • NM_001408428.1:c.665-1252A>C
  • NM_001408429.1:c.665-1252A>C
  • NM_001408430.1:c.665-1252A>C
  • NM_001408431.1:c.668-1252A>C
  • NM_001408432.1:c.662-1252A>C
  • NM_001408433.1:c.662-1252A>C
  • NM_001408434.1:c.662-1252A>C
  • NM_001408435.1:c.662-1252A>C
  • NM_001408436.1:c.665-1252A>C
  • NM_001408437.1:c.665-1252A>C
  • NM_001408438.1:c.665-1252A>C
  • NM_001408439.1:c.665-1252A>C
  • NM_001408440.1:c.665-1252A>C
  • NM_001408441.1:c.665-1252A>C
  • NM_001408442.1:c.665-1252A>C
  • NM_001408443.1:c.665-1252A>C
  • NM_001408444.1:c.665-1252A>C
  • NM_001408445.1:c.662-1252A>C
  • NM_001408446.1:c.662-1252A>C
  • NM_001408447.1:c.662-1252A>C
  • NM_001408448.1:c.662-1252A>C
  • NM_001408450.1:c.662-1252A>C
  • NM_001408451.1:c.653-1252A>C
  • NM_001408452.1:c.647-1252A>C
  • NM_001408453.1:c.647-1252A>C
  • NM_001408454.1:c.647-1252A>C
  • NM_001408455.1:c.647-1252A>C
  • NM_001408456.1:c.647-1252A>C
  • NM_001408457.1:c.647-1252A>C
  • NM_001408458.1:c.647-1252A>C
  • NM_001408459.1:c.647-1252A>C
  • NM_001408460.1:c.647-1252A>C
  • NM_001408461.1:c.647-1252A>C
  • NM_001408462.1:c.644-1252A>C
  • NM_001408463.1:c.644-1252A>C
  • NM_001408464.1:c.644-1252A>C
  • NM_001408465.1:c.644-1252A>C
  • NM_001408466.1:c.647-1252A>C
  • NM_001408467.1:c.647-1252A>C
  • NM_001408468.1:c.644-1252A>C
  • NM_001408469.1:c.647-1252A>C
  • NM_001408470.1:c.644-1252A>C
  • NM_001408472.1:c.788-1252A>C
  • NM_001408473.1:c.785-1252A>C
  • NM_001408474.1:c.587-1252A>C
  • NM_001408475.1:c.584-1252A>C
  • NM_001408476.1:c.587-1252A>C
  • NM_001408478.1:c.578-1252A>C
  • NM_001408479.1:c.578-1252A>C
  • NM_001408480.1:c.578-1252A>C
  • NM_001408481.1:c.578-1252A>C
  • NM_001408482.1:c.578-1252A>C
  • NM_001408483.1:c.578-1252A>C
  • NM_001408484.1:c.578-1252A>C
  • NM_001408485.1:c.578-1252A>C
  • NM_001408489.1:c.578-1252A>C
  • NM_001408490.1:c.575-1252A>C
  • NM_001408491.1:c.575-1252A>C
  • NM_001408492.1:c.578-1252A>C
  • NM_001408493.1:c.575-1252A>C
  • NM_001408494.1:c.548-1252A>C
  • NM_001408495.1:c.545-1252A>C
  • NM_001408496.1:c.524-1252A>C
  • NM_001408497.1:c.524-1252A>C
  • NM_001408498.1:c.524-1252A>C
  • NM_001408499.1:c.524-1252A>C
  • NM_001408500.1:c.524-1252A>C
  • NM_001408501.1:c.524-1252A>C
  • NM_001408502.1:c.455-1252A>C
  • NM_001408503.1:c.521-1252A>C
  • NM_001408504.1:c.521-1252A>C
  • NM_001408505.1:c.521-1252A>C
  • NM_001408506.1:c.461-1252A>C
  • NM_001408507.1:c.461-1252A>C
  • NM_001408508.1:c.452-1252A>C
  • NM_001408509.1:c.452-1252A>C
  • NM_001408510.1:c.407-1252A>C
  • NM_001408511.1:c.404-1252A>C
  • NM_001408512.1:c.284-1252A>C
  • NM_001408513.1:c.578-1252A>C
  • NM_001408514.1:c.578-1252A>C
  • NM_007294.4:c.3247A>CMANE SELECT
  • NM_007297.4:c.3106A>C
  • NM_007298.4:c.788-1252A>C
  • NM_007299.4:c.788-1252A>C
  • NM_007300.4:c.3247A>C
  • NP_001394500.1:p.Met1012Leu
  • NP_001394510.1:p.Met1083Leu
  • NP_001394511.1:p.Met1083Leu
  • NP_001394512.1:p.Met1083Leu
  • NP_001394514.1:p.Met1083Leu
  • NP_001394516.1:p.Met1082Leu
  • NP_001394519.1:p.Met1082Leu
  • NP_001394520.1:p.Met1082Leu
  • NP_001394522.1:p.Met1083Leu
  • NP_001394523.1:p.Met1083Leu
  • NP_001394525.1:p.Met1083Leu
  • NP_001394526.1:p.Met1083Leu
  • NP_001394527.1:p.Met1083Leu
  • NP_001394531.1:p.Met1083Leu
  • NP_001394532.1:p.Met1083Leu
  • NP_001394534.1:p.Met1083Leu
  • NP_001394539.1:p.Met1082Leu
  • NP_001394540.1:p.Met1082Leu
  • NP_001394541.1:p.Met1082Leu
  • NP_001394542.1:p.Met1082Leu
  • NP_001394543.1:p.Met1082Leu
  • NP_001394544.1:p.Met1082Leu
  • NP_001394545.1:p.Met1083Leu
  • NP_001394546.1:p.Met1083Leu
  • NP_001394547.1:p.Met1083Leu
  • NP_001394548.1:p.Met1083Leu
  • NP_001394549.1:p.Met1083Leu
  • NP_001394550.1:p.Met1083Leu
  • NP_001394551.1:p.Met1083Leu
  • NP_001394552.1:p.Met1083Leu
  • NP_001394553.1:p.Met1083Leu
  • NP_001394554.1:p.Met1083Leu
  • NP_001394555.1:p.Met1083Leu
  • NP_001394556.1:p.Met1082Leu
  • NP_001394557.1:p.Met1082Leu
  • NP_001394558.1:p.Met1082Leu
  • NP_001394559.1:p.Met1082Leu
  • NP_001394560.1:p.Met1082Leu
  • NP_001394561.1:p.Met1082Leu
  • NP_001394562.1:p.Met1082Leu
  • NP_001394563.1:p.Met1082Leu
  • NP_001394564.1:p.Met1082Leu
  • NP_001394565.1:p.Met1082Leu
  • NP_001394566.1:p.Met1082Leu
  • NP_001394567.1:p.Met1082Leu
  • NP_001394568.1:p.Met1083Leu
  • NP_001394569.1:p.Met1083Leu
  • NP_001394570.1:p.Met1083Leu
  • NP_001394571.1:p.Met1083Leu
  • NP_001394573.1:p.Met1082Leu
  • NP_001394574.1:p.Met1082Leu
  • NP_001394575.1:p.Met1080Leu
  • NP_001394576.1:p.Met1080Leu
  • NP_001394577.1:p.Met1042Leu
  • NP_001394578.1:p.Met1041Leu
  • NP_001394581.1:p.Met1083Leu
  • NP_001394582.1:p.Met1057Leu
  • NP_001394583.1:p.Met1057Leu
  • NP_001394584.1:p.Met1057Leu
  • NP_001394585.1:p.Met1057Leu
  • NP_001394586.1:p.Met1057Leu
  • NP_001394587.1:p.Met1057Leu
  • NP_001394588.1:p.Met1056Leu
  • NP_001394589.1:p.Met1056Leu
  • NP_001394590.1:p.Met1056Leu
  • NP_001394591.1:p.Met1056Leu
  • NP_001394592.1:p.Met1057Leu
  • NP_001394593.1:p.Met1042Leu
  • NP_001394594.1:p.Met1042Leu
  • NP_001394595.1:p.Met1042Leu
  • NP_001394596.1:p.Met1042Leu
  • NP_001394597.1:p.Met1042Leu
  • NP_001394598.1:p.Met1042Leu
  • NP_001394599.1:p.Met1041Leu
  • NP_001394600.1:p.Met1041Leu
  • NP_001394601.1:p.Met1041Leu
  • NP_001394602.1:p.Met1041Leu
  • NP_001394603.1:p.Met1042Leu
  • NP_001394604.1:p.Met1042Leu
  • NP_001394605.1:p.Met1042Leu
  • NP_001394606.1:p.Met1042Leu
  • NP_001394607.1:p.Met1042Leu
  • NP_001394608.1:p.Met1042Leu
  • NP_001394609.1:p.Met1042Leu
  • NP_001394610.1:p.Met1042Leu
  • NP_001394611.1:p.Met1042Leu
  • NP_001394612.1:p.Met1042Leu
  • NP_001394613.1:p.Met1083Leu
  • NP_001394614.1:p.Met1041Leu
  • NP_001394615.1:p.Met1041Leu
  • NP_001394616.1:p.Met1041Leu
  • NP_001394617.1:p.Met1041Leu
  • NP_001394618.1:p.Met1041Leu
  • NP_001394619.1:p.Met1041Leu
  • NP_001394620.1:p.Met1041Leu
  • NP_001394621.1:p.Met1036Leu
  • NP_001394623.1:p.Met1036Leu
  • NP_001394624.1:p.Met1036Leu
  • NP_001394625.1:p.Met1036Leu
  • NP_001394626.1:p.Met1036Leu
  • NP_001394627.1:p.Met1036Leu
  • NP_001394653.1:p.Met1036Leu
  • NP_001394654.1:p.Met1036Leu
  • NP_001394655.1:p.Met1036Leu
  • NP_001394656.1:p.Met1036Leu
  • NP_001394657.1:p.Met1036Leu
  • NP_001394658.1:p.Met1036Leu
  • NP_001394659.1:p.Met1036Leu
  • NP_001394660.1:p.Met1036Leu
  • NP_001394661.1:p.Met1036Leu
  • NP_001394662.1:p.Met1036Leu
  • NP_001394663.1:p.Met1036Leu
  • NP_001394664.1:p.Met1036Leu
  • NP_001394665.1:p.Met1036Leu
  • NP_001394666.1:p.Met1036Leu
  • NP_001394667.1:p.Met1036Leu
  • NP_001394668.1:p.Met1036Leu
  • NP_001394669.1:p.Met1035Leu
  • NP_001394670.1:p.Met1035Leu
  • NP_001394671.1:p.Met1035Leu
  • NP_001394672.1:p.Met1035Leu
  • NP_001394673.1:p.Met1035Leu
  • NP_001394674.1:p.Met1035Leu
  • NP_001394675.1:p.Met1035Leu
  • NP_001394676.1:p.Met1035Leu
  • NP_001394677.1:p.Met1035Leu
  • NP_001394678.1:p.Met1035Leu
  • NP_001394679.1:p.Met1036Leu
  • NP_001394680.1:p.Met1036Leu
  • NP_001394681.1:p.Met1036Leu
  • NP_001394767.1:p.Met1035Leu
  • NP_001394768.1:p.Met1035Leu
  • NP_001394770.1:p.Met1035Leu
  • NP_001394771.1:p.Met1035Leu
  • NP_001394772.1:p.Met1035Leu
  • NP_001394773.1:p.Met1035Leu
  • NP_001394774.1:p.Met1035Leu
  • NP_001394775.1:p.Met1035Leu
  • NP_001394776.1:p.Met1035Leu
  • NP_001394777.1:p.Met1035Leu
  • NP_001394778.1:p.Met1035Leu
  • NP_001394779.1:p.Met1036Leu
  • NP_001394780.1:p.Met1036Leu
  • NP_001394781.1:p.Met1036Leu
  • NP_001394782.1:p.Met1012Leu
  • NP_001394783.1:p.Met1083Leu
  • NP_001394787.1:p.Met1083Leu
  • NP_001394788.1:p.Met1083Leu
  • NP_001394789.1:p.Met1082Leu
  • NP_001394790.1:p.Met1082Leu
  • NP_001394791.1:p.Met1016Leu
  • NP_001394792.1:p.Met1042Leu
  • NP_001394803.1:p.Met1015Leu
  • NP_001394804.1:p.Met1015Leu
  • NP_001394808.1:p.Met1013Leu
  • NP_001394810.1:p.Met1013Leu
  • NP_001394811.1:p.Met1013Leu
  • NP_001394813.1:p.Met1013Leu
  • NP_001394814.1:p.Met1013Leu
  • NP_001394815.1:p.Met1013Leu
  • NP_001394816.1:p.Met1013Leu
  • NP_001394818.1:p.Met1013Leu
  • NP_001394823.1:p.Met1012Leu
  • NP_001394824.1:p.Met1012Leu
  • NP_001394825.1:p.Met1012Leu
  • NP_001394826.1:p.Met1012Leu
  • NP_001394827.1:p.Met1012Leu
  • NP_001394828.1:p.Met1012Leu
  • NP_001394829.1:p.Met1013Leu
  • NP_001394831.1:p.Met1013Leu
  • NP_001394833.1:p.Met1013Leu
  • NP_001394835.1:p.Met1013Leu
  • NP_001394836.1:p.Met1013Leu
  • NP_001394837.1:p.Met1013Leu
  • NP_001394838.1:p.Met1013Leu
  • NP_001394839.1:p.Met1013Leu
  • NP_001394844.1:p.Met1012Leu
  • NP_001394845.1:p.Met1012Leu
  • NP_001394846.1:p.Met1012Leu
  • NP_001394847.1:p.Met1012Leu
  • NP_001394848.1:p.Met1042Leu
  • NP_001394849.1:p.Met995Leu
  • NP_001394850.1:p.Met995Leu
  • NP_001394851.1:p.Met995Leu
  • NP_001394852.1:p.Met995Leu
  • NP_001394853.1:p.Met995Leu
  • NP_001394854.1:p.Met995Leu
  • NP_001394855.1:p.Met995Leu
  • NP_001394856.1:p.Met995Leu
  • NP_001394857.1:p.Met995Leu
  • NP_001394858.1:p.Met995Leu
  • NP_001394859.1:p.Met994Leu
  • NP_001394860.1:p.Met994Leu
  • NP_001394861.1:p.Met994Leu
  • NP_001394862.1:p.Met995Leu
  • NP_001394863.1:p.Met994Leu
  • NP_001394864.1:p.Met995Leu
  • NP_001394865.1:p.Met994Leu
  • NP_001394866.1:p.Met1042Leu
  • NP_001394867.1:p.Met1042Leu
  • NP_001394868.1:p.Met1042Leu
  • NP_001394869.1:p.Met1041Leu
  • NP_001394870.1:p.Met1041Leu
  • NP_001394871.1:p.Met1036Leu
  • NP_001394872.1:p.Met1035Leu
  • NP_001394873.1:p.Met1036Leu
  • NP_001394874.1:p.Met1036Leu
  • NP_001394875.1:p.Met972Leu
  • NP_001394876.1:p.Met972Leu
  • NP_001394877.1:p.Met972Leu
  • NP_001394878.1:p.Met972Leu
  • NP_001394879.1:p.Met972Leu
  • NP_001394880.1:p.Met972Leu
  • NP_001394881.1:p.Met972Leu
  • NP_001394882.1:p.Met972Leu
  • NP_001394883.1:p.Met971Leu
  • NP_001394884.1:p.Met971Leu
  • NP_001394885.1:p.Met971Leu
  • NP_001394886.1:p.Met972Leu
  • NP_001394887.1:p.Met971Leu
  • NP_001394888.1:p.Met956Leu
  • NP_001394889.1:p.Met956Leu
  • NP_001394891.1:p.Met955Leu
  • NP_001394892.1:p.Met956Leu
  • NP_001394893.1:p.Met1035Leu
  • NP_001394894.1:p.Met915Leu
  • NP_001394895.1:p.Met787Leu
  • NP_001394896.1:p.Met787Leu
  • NP_009225.1:p.Met1083Leu
  • NP_009225.1:p.Met1083Leu
  • NP_009228.2:p.Met1036Leu
  • NP_009231.2:p.Met1083Leu
  • LRG_292t1:c.3247A>C
  • LRG_292:g.125700A>C
  • LRG_292p1:p.Met1083Leu
  • NC_000017.10:g.41244301T>G
  • NM_007294.3:c.3247A>C
  • NR_027676.1:n.3383A>C
  • p.M1083L
Nucleotide change:
3366A>C
Protein change:
M1012L
Links:
dbSNP: rs397507213
NCBI 1000 Genomes Browser:
rs397507213
Molecular consequence:
  • NM_001407968.1:c.788-145A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-145A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1261A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3046A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3043A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3043A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2863A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2359A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2359A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000215601Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 11, 2024) 		germlineclinical testing

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

Citation Link,

SCV000909313Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 8, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV003849019University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

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

Citations

PubMed

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.

Seymour IJ, Casadei S, Zampiga V, Rosato S, Danesi R, Scarpi E, Falcini F, Strada M, Morini N, Naldoni C, Amadori D, Calistri D.

Breast Cancer Res Treat. 2008 Nov;112(2):343-9. Epub 2007 Dec 20.

PubMed [citation]
PMID:
18092194

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000215601.8

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

Description

The p.M1083L variant (also known as c.3247A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 3247. The methionine at codon 1083 is replaced by leucine, an amino acid with highly similar properties. This variant was observed in an individual with early onset-breast cancer amongst a cohort of 1781 non-Ashkenazi Jewish individuals undergoing BRCA1/2 gene testing based on a personal history of breast cancer (Tung N et al. Cancer, 2015 Jan;121:25-33). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV000909313.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces methionine with leucine at codon 1083 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with breast cancer (PMID: 25186627) and members of a suspected hereditary breast and ovarian cancer family (PMID: 18092194). This variant has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006343). This variant has been identified in 4/281890 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Oct 8, 2024