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NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004019581.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)]

NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)

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.389A>G (p.Tyr130Cys)
HGVS:
  • NC_000017.11:g.43104174T>C
  • NG_005905.2:g.113810A>G
  • NM_001407571.1:c.179A>G
  • NM_001407581.1:c.389A>G
  • NM_001407582.1:c.389A>G
  • NM_001407583.1:c.389A>G
  • NM_001407585.1:c.389A>G
  • NM_001407587.1:c.389A>G
  • NM_001407590.1:c.389A>G
  • NM_001407591.1:c.389A>G
  • NM_001407593.1:c.389A>G
  • NM_001407594.1:c.389A>G
  • NM_001407596.1:c.389A>G
  • NM_001407597.1:c.389A>G
  • NM_001407598.1:c.389A>G
  • NM_001407602.1:c.389A>G
  • NM_001407603.1:c.389A>G
  • NM_001407605.1:c.389A>G
  • NM_001407610.1:c.389A>G
  • NM_001407611.1:c.389A>G
  • NM_001407612.1:c.389A>G
  • NM_001407613.1:c.389A>G
  • NM_001407614.1:c.389A>G
  • NM_001407615.1:c.389A>G
  • NM_001407616.1:c.389A>G
  • NM_001407617.1:c.389A>G
  • NM_001407618.1:c.389A>G
  • NM_001407619.1:c.389A>G
  • NM_001407620.1:c.389A>G
  • NM_001407621.1:c.389A>G
  • NM_001407622.1:c.389A>G
  • NM_001407623.1:c.389A>G
  • NM_001407624.1:c.389A>G
  • NM_001407625.1:c.389A>G
  • NM_001407626.1:c.389A>G
  • NM_001407627.1:c.389A>G
  • NM_001407628.1:c.389A>G
  • NM_001407629.1:c.389A>G
  • NM_001407630.1:c.389A>G
  • NM_001407631.1:c.389A>G
  • NM_001407632.1:c.389A>G
  • NM_001407633.1:c.389A>G
  • NM_001407634.1:c.389A>G
  • NM_001407635.1:c.389A>G
  • NM_001407636.1:c.389A>G
  • NM_001407637.1:c.389A>G
  • NM_001407638.1:c.389A>G
  • NM_001407639.1:c.389A>G
  • NM_001407640.1:c.389A>G
  • NM_001407641.1:c.389A>G
  • NM_001407642.1:c.389A>G
  • NM_001407644.1:c.389A>G
  • NM_001407645.1:c.389A>G
  • NM_001407646.1:c.380A>G
  • NM_001407647.1:c.380A>G
  • NM_001407648.1:c.389A>G
  • NM_001407649.1:c.389A>G
  • NM_001407652.1:c.389A>G
  • NM_001407653.1:c.311A>G
  • NM_001407654.1:c.311A>G
  • NM_001407655.1:c.311A>G
  • NM_001407656.1:c.311A>G
  • NM_001407657.1:c.311A>G
  • NM_001407658.1:c.311A>G
  • NM_001407659.1:c.311A>G
  • NM_001407660.1:c.311A>G
  • NM_001407661.1:c.311A>G
  • NM_001407662.1:c.311A>G
  • NM_001407663.1:c.311A>G
  • NM_001407664.1:c.389A>G
  • NM_001407665.1:c.389A>G
  • NM_001407666.1:c.389A>G
  • NM_001407667.1:c.389A>G
  • NM_001407668.1:c.389A>G
  • NM_001407669.1:c.389A>G
  • NM_001407670.1:c.389A>G
  • NM_001407671.1:c.389A>G
  • NM_001407672.1:c.389A>G
  • NM_001407673.1:c.389A>G
  • NM_001407674.1:c.389A>G
  • NM_001407675.1:c.389A>G
  • NM_001407676.1:c.389A>G
  • NM_001407677.1:c.389A>G
  • NM_001407678.1:c.389A>G
  • NM_001407679.1:c.389A>G
  • NM_001407680.1:c.389A>G
  • NM_001407681.1:c.389A>G
  • NM_001407682.1:c.389A>G
  • NM_001407683.1:c.389A>G
  • NM_001407684.1:c.389A>G
  • NM_001407685.1:c.389A>G
  • NM_001407686.1:c.389A>G
  • NM_001407687.1:c.389A>G
  • NM_001407688.1:c.389A>G
  • NM_001407689.1:c.389A>G
  • NM_001407690.1:c.389A>G
  • NM_001407691.1:c.389A>G
  • NM_001407692.1:c.248A>G
  • NM_001407694.1:c.248A>G
  • NM_001407695.1:c.248A>G
  • NM_001407696.1:c.248A>G
  • NM_001407697.1:c.248A>G
  • NM_001407698.1:c.248A>G
  • NM_001407724.1:c.248A>G
  • NM_001407725.1:c.248A>G
  • NM_001407726.1:c.248A>G
  • NM_001407727.1:c.248A>G
  • NM_001407728.1:c.248A>G
  • NM_001407729.1:c.248A>G
  • NM_001407730.1:c.248A>G
  • NM_001407731.1:c.248A>G
  • NM_001407732.1:c.248A>G
  • NM_001407733.1:c.248A>G
  • NM_001407734.1:c.248A>G
  • NM_001407735.1:c.248A>G
  • NM_001407736.1:c.248A>G
  • NM_001407737.1:c.248A>G
  • NM_001407738.1:c.248A>G
  • NM_001407739.1:c.248A>G
  • NM_001407740.1:c.248A>G
  • NM_001407741.1:c.248A>G
  • NM_001407742.1:c.248A>G
  • NM_001407743.1:c.248A>G
  • NM_001407744.1:c.248A>G
  • NM_001407745.1:c.248A>G
  • NM_001407746.1:c.248A>G
  • NM_001407747.1:c.248A>G
  • NM_001407748.1:c.248A>G
  • NM_001407749.1:c.248A>G
  • NM_001407750.1:c.248A>G
  • NM_001407751.1:c.248A>G
  • NM_001407752.1:c.248A>G
  • NM_001407838.1:c.248A>G
  • NM_001407839.1:c.248A>G
  • NM_001407841.1:c.248A>G
  • NM_001407842.1:c.248A>G
  • NM_001407843.1:c.248A>G
  • NM_001407844.1:c.248A>G
  • NM_001407845.1:c.248A>G
  • NM_001407846.1:c.248A>G
  • NM_001407847.1:c.248A>G
  • NM_001407848.1:c.248A>G
  • NM_001407849.1:c.248A>G
  • NM_001407850.1:c.248A>G
  • NM_001407851.1:c.248A>G
  • NM_001407852.1:c.248A>G
  • NM_001407853.1:c.179A>G
  • NM_001407854.1:c.389A>G
  • NM_001407858.1:c.389A>G
  • NM_001407859.1:c.389A>G
  • NM_001407860.1:c.389A>G
  • NM_001407861.1:c.389A>G
  • NM_001407862.1:c.311A>G
  • NM_001407863.1:c.389A>G
  • NM_001407874.1:c.311A>G
  • NM_001407875.1:c.311A>G
  • NM_001407879.1:c.179A>G
  • NM_001407881.1:c.179A>G
  • NM_001407882.1:c.179A>G
  • NM_001407884.1:c.179A>G
  • NM_001407885.1:c.179A>G
  • NM_001407886.1:c.179A>G
  • NM_001407887.1:c.179A>G
  • NM_001407889.1:c.179A>G
  • NM_001407894.1:c.179A>G
  • NM_001407895.1:c.179A>G
  • NM_001407896.1:c.179A>G
  • NM_001407897.1:c.179A>G
  • NM_001407898.1:c.179A>G
  • NM_001407899.1:c.179A>G
  • NM_001407900.1:c.179A>G
  • NM_001407902.1:c.179A>G
  • NM_001407904.1:c.179A>G
  • NM_001407906.1:c.179A>G
  • NM_001407907.1:c.179A>G
  • NM_001407908.1:c.179A>G
  • NM_001407909.1:c.179A>G
  • NM_001407910.1:c.179A>G
  • NM_001407915.1:c.179A>G
  • NM_001407916.1:c.179A>G
  • NM_001407917.1:c.179A>G
  • NM_001407918.1:c.179A>G
  • NM_001407919.1:c.389A>G
  • NM_001407920.1:c.248A>G
  • NM_001407921.1:c.248A>G
  • NM_001407922.1:c.248A>G
  • NM_001407923.1:c.248A>G
  • NM_001407924.1:c.248A>G
  • NM_001407925.1:c.248A>G
  • NM_001407926.1:c.248A>G
  • NM_001407927.1:c.248A>G
  • NM_001407928.1:c.248A>G
  • NM_001407929.1:c.248A>G
  • NM_001407930.1:c.248A>G
  • NM_001407931.1:c.248A>G
  • NM_001407932.1:c.248A>G
  • NM_001407933.1:c.248A>G
  • NM_001407934.1:c.248A>G
  • NM_001407935.1:c.248A>G
  • NM_001407936.1:c.248A>G
  • NM_001407937.1:c.389A>G
  • NM_001407938.1:c.389A>G
  • NM_001407939.1:c.389A>G
  • NM_001407940.1:c.389A>G
  • NM_001407941.1:c.389A>G
  • NM_001407942.1:c.248A>G
  • NM_001407943.1:c.248A>G
  • NM_001407944.1:c.248A>G
  • NM_001407945.1:c.248A>G
  • NM_001407946.1:c.179A>G
  • NM_001407947.1:c.179A>G
  • NM_001407948.1:c.179A>G
  • NM_001407949.1:c.179A>G
  • NM_001407950.1:c.179A>G
  • NM_001407951.1:c.179A>G
  • NM_001407952.1:c.179A>G
  • NM_001407953.1:c.179A>G
  • NM_001407954.1:c.179A>G
  • NM_001407955.1:c.179A>G
  • NM_001407956.1:c.179A>G
  • NM_001407957.1:c.179A>G
  • NM_001407958.1:c.179A>G
  • NM_001407959.1:c.8A>G
  • NM_001407960.1:c.8A>G
  • NM_001407962.1:c.8A>G
  • NM_001407963.1:c.8A>G
  • NM_001407964.1:c.248A>G
  • NM_001407965.1:c.8A>G
  • NM_001407968.1:c.389A>G
  • NM_001407969.1:c.389A>G
  • NM_001407970.1:c.389A>G
  • NM_001407971.1:c.389A>G
  • NM_001407972.1:c.389A>G
  • NM_001407973.1:c.389A>G
  • NM_001407974.1:c.389A>G
  • NM_001407975.1:c.389A>G
  • NM_001407976.1:c.389A>G
  • NM_001407977.1:c.389A>G
  • NM_001407978.1:c.389A>G
  • NM_001407979.1:c.389A>G
  • NM_001407980.1:c.389A>G
  • NM_001407981.1:c.389A>G
  • NM_001407982.1:c.389A>G
  • NM_001407983.1:c.389A>G
  • NM_001407984.1:c.389A>G
  • NM_001407985.1:c.389A>G
  • NM_001407986.1:c.389A>G
  • NM_001407990.1:c.389A>G
  • NM_001407991.1:c.389A>G
  • NM_001407992.1:c.389A>G
  • NM_001407993.1:c.389A>G
  • NM_001408392.1:c.389A>G
  • NM_001408396.1:c.389A>G
  • NM_001408397.1:c.389A>G
  • NM_001408398.1:c.389A>G
  • NM_001408399.1:c.389A>G
  • NM_001408400.1:c.389A>G
  • NM_001408401.1:c.389A>G
  • NM_001408402.1:c.389A>G
  • NM_001408403.1:c.389A>G
  • NM_001408404.1:c.389A>G
  • NM_001408406.1:c.389A>G
  • NM_001408407.1:c.389A>G
  • NM_001408408.1:c.380A>G
  • NM_001408409.1:c.311A>G
  • NM_001408410.1:c.248A>G
  • NM_001408411.1:c.311A>G
  • NM_001408412.1:c.311A>G
  • NM_001408413.1:c.311A>G
  • NM_001408414.1:c.311A>G
  • NM_001408415.1:c.311A>G
  • NM_001408416.1:c.311A>G
  • NM_001408418.1:c.389A>G
  • NM_001408419.1:c.389A>G
  • NM_001408420.1:c.389A>G
  • NM_001408421.1:c.389A>G
  • NM_001408422.1:c.389A>G
  • NM_001408423.1:c.389A>G
  • NM_001408424.1:c.389A>G
  • NM_001408425.1:c.389A>G
  • NM_001408426.1:c.389A>G
  • NM_001408427.1:c.389A>G
  • NM_001408428.1:c.389A>G
  • NM_001408429.1:c.389A>G
  • NM_001408430.1:c.389A>G
  • NM_001408431.1:c.389A>G
  • NM_001408432.1:c.389A>G
  • NM_001408433.1:c.389A>G
  • NM_001408434.1:c.389A>G
  • NM_001408435.1:c.389A>G
  • NM_001408436.1:c.389A>G
  • NM_001408437.1:c.389A>G
  • NM_001408438.1:c.389A>G
  • NM_001408439.1:c.389A>G
  • NM_001408440.1:c.389A>G
  • NM_001408441.1:c.389A>G
  • NM_001408442.1:c.389A>G
  • NM_001408443.1:c.389A>G
  • NM_001408444.1:c.389A>G
  • NM_001408445.1:c.389A>G
  • NM_001408446.1:c.389A>G
  • NM_001408447.1:c.389A>G
  • NM_001408448.1:c.389A>G
  • NM_001408450.1:c.389A>G
  • NM_001408451.1:c.257A>G
  • NM_001408452.1:c.248A>G
  • NM_001408453.1:c.248A>G
  • NM_001408454.1:c.248A>G
  • NM_001408455.1:c.248A>G
  • NM_001408456.1:c.248A>G
  • NM_001408457.1:c.248A>G
  • NM_001408458.1:c.248A>G
  • NM_001408459.1:c.248A>G
  • NM_001408460.1:c.248A>G
  • NM_001408461.1:c.248A>G
  • NM_001408462.1:c.248A>G
  • NM_001408463.1:c.248A>G
  • NM_001408464.1:c.248A>G
  • NM_001408465.1:c.248A>G
  • NM_001408466.1:c.248A>G
  • NM_001408467.1:c.248A>G
  • NM_001408468.1:c.248A>G
  • NM_001408469.1:c.248A>G
  • NM_001408470.1:c.248A>G
  • NM_001408472.1:c.389A>G
  • NM_001408473.1:c.389A>G
  • NM_001408474.1:c.311A>G
  • NM_001408475.1:c.311A>G
  • NM_001408476.1:c.311A>G
  • NM_001408478.1:c.179A>G
  • NM_001408479.1:c.179A>G
  • NM_001408480.1:c.179A>G
  • NM_001408481.1:c.179A>G
  • NM_001408482.1:c.179A>G
  • NM_001408483.1:c.179A>G
  • NM_001408484.1:c.179A>G
  • NM_001408485.1:c.179A>G
  • NM_001408489.1:c.179A>G
  • NM_001408490.1:c.179A>G
  • NM_001408491.1:c.179A>G
  • NM_001408492.1:c.179A>G
  • NM_001408493.1:c.179A>G
  • NM_001408494.1:c.389A>G
  • NM_001408495.1:c.389A>G
  • NM_001408496.1:c.248A>G
  • NM_001408497.1:c.248A>G
  • NM_001408498.1:c.248A>G
  • NM_001408499.1:c.248A>G
  • NM_001408500.1:c.248A>G
  • NM_001408501.1:c.248A>G
  • NM_001408502.1:c.179A>G
  • NM_001408503.1:c.248A>G
  • NM_001408504.1:c.248A>G
  • NM_001408505.1:c.248A>G
  • NM_001408506.1:c.179A>G
  • NM_001408507.1:c.179A>G
  • NM_001408508.1:c.179A>G
  • NM_001408509.1:c.179A>G
  • NM_001408510.1:c.8A>G
  • NM_001408511.1:c.248A>G
  • NM_001408512.1:c.8A>G
  • NM_001408513.1:c.179A>G
  • NM_001408514.1:c.179A>G
  • NM_007294.4:c.389A>GMANE SELECT
  • NM_007297.4:c.248A>G
  • NM_007298.4:c.389A>G
  • NM_007299.4:c.389A>G
  • NM_007300.4:c.389A>G
  • NM_007304.2:c.389A>G
  • NP_001394500.1:p.Tyr60Cys
  • NP_001394510.1:p.Tyr130Cys
  • NP_001394511.1:p.Tyr130Cys
  • NP_001394512.1:p.Tyr130Cys
  • NP_001394514.1:p.Tyr130Cys
  • NP_001394516.1:p.Tyr130Cys
  • NP_001394519.1:p.Tyr130Cys
  • NP_001394520.1:p.Tyr130Cys
  • NP_001394522.1:p.Tyr130Cys
  • NP_001394523.1:p.Tyr130Cys
  • NP_001394525.1:p.Tyr130Cys
  • NP_001394526.1:p.Tyr130Cys
  • NP_001394527.1:p.Tyr130Cys
  • NP_001394531.1:p.Tyr130Cys
  • NP_001394532.1:p.Tyr130Cys
  • NP_001394534.1:p.Tyr130Cys
  • NP_001394539.1:p.Tyr130Cys
  • NP_001394540.1:p.Tyr130Cys
  • NP_001394541.1:p.Tyr130Cys
  • NP_001394542.1:p.Tyr130Cys
  • NP_001394543.1:p.Tyr130Cys
  • NP_001394544.1:p.Tyr130Cys
  • NP_001394545.1:p.Tyr130Cys
  • NP_001394546.1:p.Tyr130Cys
  • NP_001394547.1:p.Tyr130Cys
  • NP_001394548.1:p.Tyr130Cys
  • NP_001394549.1:p.Tyr130Cys
  • NP_001394550.1:p.Tyr130Cys
  • NP_001394551.1:p.Tyr130Cys
  • NP_001394552.1:p.Tyr130Cys
  • NP_001394553.1:p.Tyr130Cys
  • NP_001394554.1:p.Tyr130Cys
  • NP_001394555.1:p.Tyr130Cys
  • NP_001394556.1:p.Tyr130Cys
  • NP_001394557.1:p.Tyr130Cys
  • NP_001394558.1:p.Tyr130Cys
  • NP_001394559.1:p.Tyr130Cys
  • NP_001394560.1:p.Tyr130Cys
  • NP_001394561.1:p.Tyr130Cys
  • NP_001394562.1:p.Tyr130Cys
  • NP_001394563.1:p.Tyr130Cys
  • NP_001394564.1:p.Tyr130Cys
  • NP_001394565.1:p.Tyr130Cys
  • NP_001394566.1:p.Tyr130Cys
  • NP_001394567.1:p.Tyr130Cys
  • NP_001394568.1:p.Tyr130Cys
  • NP_001394569.1:p.Tyr130Cys
  • NP_001394570.1:p.Tyr130Cys
  • NP_001394571.1:p.Tyr130Cys
  • NP_001394573.1:p.Tyr130Cys
  • NP_001394574.1:p.Tyr130Cys
  • NP_001394575.1:p.Tyr127Cys
  • NP_001394576.1:p.Tyr127Cys
  • NP_001394577.1:p.Tyr130Cys
  • NP_001394578.1:p.Tyr130Cys
  • NP_001394581.1:p.Tyr130Cys
  • NP_001394582.1:p.Tyr104Cys
  • NP_001394583.1:p.Tyr104Cys
  • NP_001394584.1:p.Tyr104Cys
  • NP_001394585.1:p.Tyr104Cys
  • NP_001394586.1:p.Tyr104Cys
  • NP_001394587.1:p.Tyr104Cys
  • NP_001394588.1:p.Tyr104Cys
  • NP_001394589.1:p.Tyr104Cys
  • NP_001394590.1:p.Tyr104Cys
  • NP_001394591.1:p.Tyr104Cys
  • NP_001394592.1:p.Tyr104Cys
  • NP_001394593.1:p.Tyr130Cys
  • NP_001394594.1:p.Tyr130Cys
  • NP_001394595.1:p.Tyr130Cys
  • NP_001394596.1:p.Tyr130Cys
  • NP_001394597.1:p.Tyr130Cys
  • NP_001394598.1:p.Tyr130Cys
  • NP_001394599.1:p.Tyr130Cys
  • NP_001394600.1:p.Tyr130Cys
  • NP_001394601.1:p.Tyr130Cys
  • NP_001394602.1:p.Tyr130Cys
  • NP_001394603.1:p.Tyr130Cys
  • NP_001394604.1:p.Tyr130Cys
  • NP_001394605.1:p.Tyr130Cys
  • NP_001394606.1:p.Tyr130Cys
  • NP_001394607.1:p.Tyr130Cys
  • NP_001394608.1:p.Tyr130Cys
  • NP_001394609.1:p.Tyr130Cys
  • NP_001394610.1:p.Tyr130Cys
  • NP_001394611.1:p.Tyr130Cys
  • NP_001394612.1:p.Tyr130Cys
  • NP_001394613.1:p.Tyr130Cys
  • NP_001394614.1:p.Tyr130Cys
  • NP_001394615.1:p.Tyr130Cys
  • NP_001394616.1:p.Tyr130Cys
  • NP_001394617.1:p.Tyr130Cys
  • NP_001394618.1:p.Tyr130Cys
  • NP_001394619.1:p.Tyr130Cys
  • NP_001394620.1:p.Tyr130Cys
  • NP_001394621.1:p.Tyr83Cys
  • NP_001394623.1:p.Tyr83Cys
  • NP_001394624.1:p.Tyr83Cys
  • NP_001394625.1:p.Tyr83Cys
  • NP_001394626.1:p.Tyr83Cys
  • NP_001394627.1:p.Tyr83Cys
  • NP_001394653.1:p.Tyr83Cys
  • NP_001394654.1:p.Tyr83Cys
  • NP_001394655.1:p.Tyr83Cys
  • NP_001394656.1:p.Tyr83Cys
  • NP_001394657.1:p.Tyr83Cys
  • NP_001394658.1:p.Tyr83Cys
  • NP_001394659.1:p.Tyr83Cys
  • NP_001394660.1:p.Tyr83Cys
  • NP_001394661.1:p.Tyr83Cys
  • NP_001394662.1:p.Tyr83Cys
  • NP_001394663.1:p.Tyr83Cys
  • NP_001394664.1:p.Tyr83Cys
  • NP_001394665.1:p.Tyr83Cys
  • NP_001394666.1:p.Tyr83Cys
  • NP_001394667.1:p.Tyr83Cys
  • NP_001394668.1:p.Tyr83Cys
  • NP_001394669.1:p.Tyr83Cys
  • NP_001394670.1:p.Tyr83Cys
  • NP_001394671.1:p.Tyr83Cys
  • NP_001394672.1:p.Tyr83Cys
  • NP_001394673.1:p.Tyr83Cys
  • NP_001394674.1:p.Tyr83Cys
  • NP_001394675.1:p.Tyr83Cys
  • NP_001394676.1:p.Tyr83Cys
  • NP_001394677.1:p.Tyr83Cys
  • NP_001394678.1:p.Tyr83Cys
  • NP_001394679.1:p.Tyr83Cys
  • NP_001394680.1:p.Tyr83Cys
  • NP_001394681.1:p.Tyr83Cys
  • NP_001394767.1:p.Tyr83Cys
  • NP_001394768.1:p.Tyr83Cys
  • NP_001394770.1:p.Tyr83Cys
  • NP_001394771.1:p.Tyr83Cys
  • NP_001394772.1:p.Tyr83Cys
  • NP_001394773.1:p.Tyr83Cys
  • NP_001394774.1:p.Tyr83Cys
  • NP_001394775.1:p.Tyr83Cys
  • NP_001394776.1:p.Tyr83Cys
  • NP_001394777.1:p.Tyr83Cys
  • NP_001394778.1:p.Tyr83Cys
  • NP_001394779.1:p.Tyr83Cys
  • NP_001394780.1:p.Tyr83Cys
  • NP_001394781.1:p.Tyr83Cys
  • NP_001394782.1:p.Tyr60Cys
  • NP_001394783.1:p.Tyr130Cys
  • NP_001394787.1:p.Tyr130Cys
  • NP_001394788.1:p.Tyr130Cys
  • NP_001394789.1:p.Tyr130Cys
  • NP_001394790.1:p.Tyr130Cys
  • NP_001394791.1:p.Tyr104Cys
  • NP_001394792.1:p.Tyr130Cys
  • NP_001394803.1:p.Tyr104Cys
  • NP_001394804.1:p.Tyr104Cys
  • NP_001394808.1:p.Tyr60Cys
  • NP_001394810.1:p.Tyr60Cys
  • NP_001394811.1:p.Tyr60Cys
  • NP_001394813.1:p.Tyr60Cys
  • NP_001394814.1:p.Tyr60Cys
  • NP_001394815.1:p.Tyr60Cys
  • NP_001394816.1:p.Tyr60Cys
  • NP_001394818.1:p.Tyr60Cys
  • NP_001394823.1:p.Tyr60Cys
  • NP_001394824.1:p.Tyr60Cys
  • NP_001394825.1:p.Tyr60Cys
  • NP_001394826.1:p.Tyr60Cys
  • NP_001394827.1:p.Tyr60Cys
  • NP_001394828.1:p.Tyr60Cys
  • NP_001394829.1:p.Tyr60Cys
  • NP_001394831.1:p.Tyr60Cys
  • NP_001394833.1:p.Tyr60Cys
  • NP_001394835.1:p.Tyr60Cys
  • NP_001394836.1:p.Tyr60Cys
  • NP_001394837.1:p.Tyr60Cys
  • NP_001394838.1:p.Tyr60Cys
  • NP_001394839.1:p.Tyr60Cys
  • NP_001394844.1:p.Tyr60Cys
  • NP_001394845.1:p.Tyr60Cys
  • NP_001394846.1:p.Tyr60Cys
  • NP_001394847.1:p.Tyr60Cys
  • NP_001394848.1:p.Tyr130Cys
  • NP_001394849.1:p.Tyr83Cys
  • NP_001394850.1:p.Tyr83Cys
  • NP_001394851.1:p.Tyr83Cys
  • NP_001394852.1:p.Tyr83Cys
  • NP_001394853.1:p.Tyr83Cys
  • NP_001394854.1:p.Tyr83Cys
  • NP_001394855.1:p.Tyr83Cys
  • NP_001394856.1:p.Tyr83Cys
  • NP_001394857.1:p.Tyr83Cys
  • NP_001394858.1:p.Tyr83Cys
  • NP_001394859.1:p.Tyr83Cys
  • NP_001394860.1:p.Tyr83Cys
  • NP_001394861.1:p.Tyr83Cys
  • NP_001394862.1:p.Tyr83Cys
  • NP_001394863.1:p.Tyr83Cys
  • NP_001394864.1:p.Tyr83Cys
  • NP_001394865.1:p.Tyr83Cys
  • NP_001394866.1:p.Tyr130Cys
  • NP_001394867.1:p.Tyr130Cys
  • NP_001394868.1:p.Tyr130Cys
  • NP_001394869.1:p.Tyr130Cys
  • NP_001394870.1:p.Tyr130Cys
  • NP_001394871.1:p.Tyr83Cys
  • NP_001394872.1:p.Tyr83Cys
  • NP_001394873.1:p.Tyr83Cys
  • NP_001394874.1:p.Tyr83Cys
  • NP_001394875.1:p.Tyr60Cys
  • NP_001394876.1:p.Tyr60Cys
  • NP_001394877.1:p.Tyr60Cys
  • NP_001394878.1:p.Tyr60Cys
  • NP_001394879.1:p.Tyr60Cys
  • NP_001394880.1:p.Tyr60Cys
  • NP_001394881.1:p.Tyr60Cys
  • NP_001394882.1:p.Tyr60Cys
  • NP_001394883.1:p.Tyr60Cys
  • NP_001394884.1:p.Tyr60Cys
  • NP_001394885.1:p.Tyr60Cys
  • NP_001394886.1:p.Tyr60Cys
  • NP_001394887.1:p.Tyr60Cys
  • NP_001394888.1:p.Tyr3Cys
  • NP_001394889.1:p.Tyr3Cys
  • NP_001394891.1:p.Tyr3Cys
  • NP_001394892.1:p.Tyr3Cys
  • NP_001394893.1:p.Tyr83Cys
  • NP_001394894.1:p.Tyr3Cys
  • NP_001394897.1:p.Tyr130Cys
  • NP_001394898.1:p.Tyr130Cys
  • NP_001394899.1:p.Tyr130Cys
  • NP_001394900.1:p.Tyr130Cys
  • NP_001394901.1:p.Tyr130Cys
  • NP_001394902.1:p.Tyr130Cys
  • NP_001394903.1:p.Tyr130Cys
  • NP_001394904.1:p.Tyr130Cys
  • NP_001394905.1:p.Tyr130Cys
  • NP_001394906.1:p.Tyr130Cys
  • NP_001394907.1:p.Tyr130Cys
  • NP_001394908.1:p.Tyr130Cys
  • NP_001394909.1:p.Tyr130Cys
  • NP_001394910.1:p.Tyr130Cys
  • NP_001394911.1:p.Tyr130Cys
  • NP_001394912.1:p.Tyr130Cys
  • NP_001394913.1:p.Tyr130Cys
  • NP_001394914.1:p.Tyr130Cys
  • NP_001394915.1:p.Tyr130Cys
  • NP_001394919.1:p.Tyr130Cys
  • NP_001394920.1:p.Tyr130Cys
  • NP_001394921.1:p.Tyr130Cys
  • NP_001394922.1:p.Tyr130Cys
  • NP_001395321.1:p.Tyr130Cys
  • NP_001395325.1:p.Tyr130Cys
  • NP_001395326.1:p.Tyr130Cys
  • NP_001395327.1:p.Tyr130Cys
  • NP_001395328.1:p.Tyr130Cys
  • NP_001395329.1:p.Tyr130Cys
  • NP_001395330.1:p.Tyr130Cys
  • NP_001395331.1:p.Tyr130Cys
  • NP_001395332.1:p.Tyr130Cys
  • NP_001395333.1:p.Tyr130Cys
  • NP_001395335.1:p.Tyr130Cys
  • NP_001395336.1:p.Tyr130Cys
  • NP_001395337.1:p.Tyr127Cys
  • NP_001395338.1:p.Tyr104Cys
  • NP_001395339.1:p.Tyr83Cys
  • NP_001395340.1:p.Tyr104Cys
  • NP_001395341.1:p.Tyr104Cys
  • NP_001395342.1:p.Tyr104Cys
  • NP_001395343.1:p.Tyr104Cys
  • NP_001395344.1:p.Tyr104Cys
  • NP_001395345.1:p.Tyr104Cys
  • NP_001395347.1:p.Tyr130Cys
  • NP_001395348.1:p.Tyr130Cys
  • NP_001395349.1:p.Tyr130Cys
  • NP_001395350.1:p.Tyr130Cys
  • NP_001395351.1:p.Tyr130Cys
  • NP_001395352.1:p.Tyr130Cys
  • NP_001395353.1:p.Tyr130Cys
  • NP_001395354.1:p.Tyr130Cys
  • NP_001395355.1:p.Tyr130Cys
  • NP_001395356.1:p.Tyr130Cys
  • NP_001395357.1:p.Tyr130Cys
  • NP_001395358.1:p.Tyr130Cys
  • NP_001395359.1:p.Tyr130Cys
  • NP_001395360.1:p.Tyr130Cys
  • NP_001395361.1:p.Tyr130Cys
  • NP_001395362.1:p.Tyr130Cys
  • NP_001395363.1:p.Tyr130Cys
  • NP_001395364.1:p.Tyr130Cys
  • NP_001395365.1:p.Tyr130Cys
  • NP_001395366.1:p.Tyr130Cys
  • NP_001395367.1:p.Tyr130Cys
  • NP_001395368.1:p.Tyr130Cys
  • NP_001395369.1:p.Tyr130Cys
  • NP_001395370.1:p.Tyr130Cys
  • NP_001395371.1:p.Tyr130Cys
  • NP_001395372.1:p.Tyr130Cys
  • NP_001395373.1:p.Tyr130Cys
  • NP_001395374.1:p.Tyr130Cys
  • NP_001395375.1:p.Tyr130Cys
  • NP_001395376.1:p.Tyr130Cys
  • NP_001395377.1:p.Tyr130Cys
  • NP_001395379.1:p.Tyr130Cys
  • NP_001395380.1:p.Tyr86Cys
  • NP_001395381.1:p.Tyr83Cys
  • NP_001395382.1:p.Tyr83Cys
  • NP_001395383.1:p.Tyr83Cys
  • NP_001395384.1:p.Tyr83Cys
  • NP_001395385.1:p.Tyr83Cys
  • NP_001395386.1:p.Tyr83Cys
  • NP_001395387.1:p.Tyr83Cys
  • NP_001395388.1:p.Tyr83Cys
  • NP_001395389.1:p.Tyr83Cys
  • NP_001395390.1:p.Tyr83Cys
  • NP_001395391.1:p.Tyr83Cys
  • NP_001395392.1:p.Tyr83Cys
  • NP_001395393.1:p.Tyr83Cys
  • NP_001395394.1:p.Tyr83Cys
  • NP_001395395.1:p.Tyr83Cys
  • NP_001395396.1:p.Tyr83Cys
  • NP_001395397.1:p.Tyr83Cys
  • NP_001395398.1:p.Tyr83Cys
  • NP_001395399.1:p.Tyr83Cys
  • NP_001395401.1:p.Tyr130Cys
  • NP_001395402.1:p.Tyr130Cys
  • NP_001395403.1:p.Tyr104Cys
  • NP_001395404.1:p.Tyr104Cys
  • NP_001395405.1:p.Tyr104Cys
  • NP_001395407.1:p.Tyr60Cys
  • NP_001395408.1:p.Tyr60Cys
  • NP_001395409.1:p.Tyr60Cys
  • NP_001395410.1:p.Tyr60Cys
  • NP_001395411.1:p.Tyr60Cys
  • NP_001395412.1:p.Tyr60Cys
  • NP_001395413.1:p.Tyr60Cys
  • NP_001395414.1:p.Tyr60Cys
  • NP_001395418.1:p.Tyr60Cys
  • NP_001395419.1:p.Tyr60Cys
  • NP_001395420.1:p.Tyr60Cys
  • NP_001395421.1:p.Tyr60Cys
  • NP_001395422.1:p.Tyr60Cys
  • NP_001395423.1:p.Tyr130Cys
  • NP_001395424.1:p.Tyr130Cys
  • NP_001395425.1:p.Tyr83Cys
  • NP_001395426.1:p.Tyr83Cys
  • NP_001395427.1:p.Tyr83Cys
  • NP_001395428.1:p.Tyr83Cys
  • NP_001395429.1:p.Tyr83Cys
  • NP_001395430.1:p.Tyr83Cys
  • NP_001395431.1:p.Tyr60Cys
  • NP_001395432.1:p.Tyr83Cys
  • NP_001395433.1:p.Tyr83Cys
  • NP_001395434.1:p.Tyr83Cys
  • NP_001395435.1:p.Tyr60Cys
  • NP_001395436.1:p.Tyr60Cys
  • NP_001395437.1:p.Tyr60Cys
  • NP_001395438.1:p.Tyr60Cys
  • NP_001395439.1:p.Tyr3Cys
  • NP_001395440.1:p.Tyr83Cys
  • NP_001395441.1:p.Tyr3Cys
  • NP_001395442.1:p.Tyr60Cys
  • NP_001395443.1:p.Tyr60Cys
  • NP_009225.1:p.Tyr130Cys
  • NP_009225.1:p.Tyr130Cys
  • NP_009228.2:p.Tyr83Cys
  • NP_009229.2:p.Tyr130Cys
  • NP_009229.2:p.Tyr130Cys
  • NP_009230.2:p.Tyr130Cys
  • NP_009231.2:p.Tyr130Cys
  • NP_009235.2:p.Tyr130Cys
  • LRG_292t1:c.389A>G
  • LRG_292:g.113810A>G
  • LRG_292p1:p.Tyr130Cys
  • NC_000017.10:g.41256191T>C
  • NM_007294.3:c.389A>G
  • NM_007298.3:c.389A>G
  • NR_027676.2:n.569A>G
Nucleotide change:
508A>G
Protein change:
Y104C
Links:
dbSNP: rs56055578
NCBI 1000 Genomes Browser:
rs56055578
Molecular consequence:
  • NM_001407571.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.257A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.569A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005025888Ambry Genetics
criteria provided, single submitter

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

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005025888.1

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

Description

The p.Y130C variant (also known as c.389A>G), located in coding exon 5 of the BRCA1 gene, results from an A to G substitution at nucleotide position 389. The tyrosine at codon 130 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024