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NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Aug 15, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353908.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)]

NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)

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.390C>A (p.Tyr130Ter)
HGVS:
  • NC_000017.11:g.43104173G>T
  • NG_005905.2:g.113811C>A
  • NM_001407571.1:c.180C>A
  • NM_001407581.1:c.390C>A
  • NM_001407582.1:c.390C>A
  • NM_001407583.1:c.390C>A
  • NM_001407585.1:c.390C>A
  • NM_001407587.1:c.390C>A
  • NM_001407590.1:c.390C>A
  • NM_001407591.1:c.390C>A
  • NM_001407593.1:c.390C>A
  • NM_001407594.1:c.390C>A
  • NM_001407596.1:c.390C>A
  • NM_001407597.1:c.390C>A
  • NM_001407598.1:c.390C>A
  • NM_001407602.1:c.390C>A
  • NM_001407603.1:c.390C>A
  • NM_001407605.1:c.390C>A
  • NM_001407610.1:c.390C>A
  • NM_001407611.1:c.390C>A
  • NM_001407612.1:c.390C>A
  • NM_001407613.1:c.390C>A
  • NM_001407614.1:c.390C>A
  • NM_001407615.1:c.390C>A
  • NM_001407616.1:c.390C>A
  • NM_001407617.1:c.390C>A
  • NM_001407618.1:c.390C>A
  • NM_001407619.1:c.390C>A
  • NM_001407620.1:c.390C>A
  • NM_001407621.1:c.390C>A
  • NM_001407622.1:c.390C>A
  • NM_001407623.1:c.390C>A
  • NM_001407624.1:c.390C>A
  • NM_001407625.1:c.390C>A
  • NM_001407626.1:c.390C>A
  • NM_001407627.1:c.390C>A
  • NM_001407628.1:c.390C>A
  • NM_001407629.1:c.390C>A
  • NM_001407630.1:c.390C>A
  • NM_001407631.1:c.390C>A
  • NM_001407632.1:c.390C>A
  • NM_001407633.1:c.390C>A
  • NM_001407634.1:c.390C>A
  • NM_001407635.1:c.390C>A
  • NM_001407636.1:c.390C>A
  • NM_001407637.1:c.390C>A
  • NM_001407638.1:c.390C>A
  • NM_001407639.1:c.390C>A
  • NM_001407640.1:c.390C>A
  • NM_001407641.1:c.390C>A
  • NM_001407642.1:c.390C>A
  • NM_001407644.1:c.390C>A
  • NM_001407645.1:c.390C>A
  • NM_001407646.1:c.381C>A
  • NM_001407647.1:c.381C>A
  • NM_001407648.1:c.390C>A
  • NM_001407649.1:c.390C>A
  • NM_001407652.1:c.390C>A
  • NM_001407653.1:c.312C>A
  • NM_001407654.1:c.312C>A
  • NM_001407655.1:c.312C>A
  • NM_001407656.1:c.312C>A
  • NM_001407657.1:c.312C>A
  • NM_001407658.1:c.312C>A
  • NM_001407659.1:c.312C>A
  • NM_001407660.1:c.312C>A
  • NM_001407661.1:c.312C>A
  • NM_001407662.1:c.312C>A
  • NM_001407663.1:c.312C>A
  • NM_001407664.1:c.390C>A
  • NM_001407665.1:c.390C>A
  • NM_001407666.1:c.390C>A
  • NM_001407667.1:c.390C>A
  • NM_001407668.1:c.390C>A
  • NM_001407669.1:c.390C>A
  • NM_001407670.1:c.390C>A
  • NM_001407671.1:c.390C>A
  • NM_001407672.1:c.390C>A
  • NM_001407673.1:c.390C>A
  • NM_001407674.1:c.390C>A
  • NM_001407675.1:c.390C>A
  • NM_001407676.1:c.390C>A
  • NM_001407677.1:c.390C>A
  • NM_001407678.1:c.390C>A
  • NM_001407679.1:c.390C>A
  • NM_001407680.1:c.390C>A
  • NM_001407681.1:c.390C>A
  • NM_001407682.1:c.390C>A
  • NM_001407683.1:c.390C>A
  • NM_001407684.1:c.390C>A
  • NM_001407685.1:c.390C>A
  • NM_001407686.1:c.390C>A
  • NM_001407687.1:c.390C>A
  • NM_001407688.1:c.390C>A
  • NM_001407689.1:c.390C>A
  • NM_001407690.1:c.390C>A
  • NM_001407691.1:c.390C>A
  • NM_001407692.1:c.249C>A
  • NM_001407694.1:c.249C>A
  • NM_001407695.1:c.249C>A
  • NM_001407696.1:c.249C>A
  • NM_001407697.1:c.249C>A
  • NM_001407698.1:c.249C>A
  • NM_001407724.1:c.249C>A
  • NM_001407725.1:c.249C>A
  • NM_001407726.1:c.249C>A
  • NM_001407727.1:c.249C>A
  • NM_001407728.1:c.249C>A
  • NM_001407729.1:c.249C>A
  • NM_001407730.1:c.249C>A
  • NM_001407731.1:c.249C>A
  • NM_001407732.1:c.249C>A
  • NM_001407733.1:c.249C>A
  • NM_001407734.1:c.249C>A
  • NM_001407735.1:c.249C>A
  • NM_001407736.1:c.249C>A
  • NM_001407737.1:c.249C>A
  • NM_001407738.1:c.249C>A
  • NM_001407739.1:c.249C>A
  • NM_001407740.1:c.249C>A
  • NM_001407741.1:c.249C>A
  • NM_001407742.1:c.249C>A
  • NM_001407743.1:c.249C>A
  • NM_001407744.1:c.249C>A
  • NM_001407745.1:c.249C>A
  • NM_001407746.1:c.249C>A
  • NM_001407747.1:c.249C>A
  • NM_001407748.1:c.249C>A
  • NM_001407749.1:c.249C>A
  • NM_001407750.1:c.249C>A
  • NM_001407751.1:c.249C>A
  • NM_001407752.1:c.249C>A
  • NM_001407838.1:c.249C>A
  • NM_001407839.1:c.249C>A
  • NM_001407841.1:c.249C>A
  • NM_001407842.1:c.249C>A
  • NM_001407843.1:c.249C>A
  • NM_001407844.1:c.249C>A
  • NM_001407845.1:c.249C>A
  • NM_001407846.1:c.249C>A
  • NM_001407847.1:c.249C>A
  • NM_001407848.1:c.249C>A
  • NM_001407849.1:c.249C>A
  • NM_001407850.1:c.249C>A
  • NM_001407851.1:c.249C>A
  • NM_001407852.1:c.249C>A
  • NM_001407853.1:c.180C>A
  • NM_001407854.1:c.390C>A
  • NM_001407858.1:c.390C>A
  • NM_001407859.1:c.390C>A
  • NM_001407860.1:c.390C>A
  • NM_001407861.1:c.390C>A
  • NM_001407862.1:c.312C>A
  • NM_001407863.1:c.390C>A
  • NM_001407874.1:c.312C>A
  • NM_001407875.1:c.312C>A
  • NM_001407879.1:c.180C>A
  • NM_001407881.1:c.180C>A
  • NM_001407882.1:c.180C>A
  • NM_001407884.1:c.180C>A
  • NM_001407885.1:c.180C>A
  • NM_001407886.1:c.180C>A
  • NM_001407887.1:c.180C>A
  • NM_001407889.1:c.180C>A
  • NM_001407894.1:c.180C>A
  • NM_001407895.1:c.180C>A
  • NM_001407896.1:c.180C>A
  • NM_001407897.1:c.180C>A
  • NM_001407898.1:c.180C>A
  • NM_001407899.1:c.180C>A
  • NM_001407900.1:c.180C>A
  • NM_001407902.1:c.180C>A
  • NM_001407904.1:c.180C>A
  • NM_001407906.1:c.180C>A
  • NM_001407907.1:c.180C>A
  • NM_001407908.1:c.180C>A
  • NM_001407909.1:c.180C>A
  • NM_001407910.1:c.180C>A
  • NM_001407915.1:c.180C>A
  • NM_001407916.1:c.180C>A
  • NM_001407917.1:c.180C>A
  • NM_001407918.1:c.180C>A
  • NM_001407919.1:c.390C>A
  • NM_001407920.1:c.249C>A
  • NM_001407921.1:c.249C>A
  • NM_001407922.1:c.249C>A
  • NM_001407923.1:c.249C>A
  • NM_001407924.1:c.249C>A
  • NM_001407925.1:c.249C>A
  • NM_001407926.1:c.249C>A
  • NM_001407927.1:c.249C>A
  • NM_001407928.1:c.249C>A
  • NM_001407929.1:c.249C>A
  • NM_001407930.1:c.249C>A
  • NM_001407931.1:c.249C>A
  • NM_001407932.1:c.249C>A
  • NM_001407933.1:c.249C>A
  • NM_001407934.1:c.249C>A
  • NM_001407935.1:c.249C>A
  • NM_001407936.1:c.249C>A
  • NM_001407937.1:c.390C>A
  • NM_001407938.1:c.390C>A
  • NM_001407939.1:c.390C>A
  • NM_001407940.1:c.390C>A
  • NM_001407941.1:c.390C>A
  • NM_001407942.1:c.249C>A
  • NM_001407943.1:c.249C>A
  • NM_001407944.1:c.249C>A
  • NM_001407945.1:c.249C>A
  • NM_001407946.1:c.180C>A
  • NM_001407947.1:c.180C>A
  • NM_001407948.1:c.180C>A
  • NM_001407949.1:c.180C>A
  • NM_001407950.1:c.180C>A
  • NM_001407951.1:c.180C>A
  • NM_001407952.1:c.180C>A
  • NM_001407953.1:c.180C>A
  • NM_001407954.1:c.180C>A
  • NM_001407955.1:c.180C>A
  • NM_001407956.1:c.180C>A
  • NM_001407957.1:c.180C>A
  • NM_001407958.1:c.180C>A
  • NM_001407959.1:c.9C>A
  • NM_001407960.1:c.9C>A
  • NM_001407962.1:c.9C>A
  • NM_001407963.1:c.9C>A
  • NM_001407964.1:c.249C>A
  • NM_001407965.1:c.9C>A
  • NM_001407968.1:c.390C>A
  • NM_001407969.1:c.390C>A
  • NM_001407970.1:c.390C>A
  • NM_001407971.1:c.390C>A
  • NM_001407972.1:c.390C>A
  • NM_001407973.1:c.390C>A
  • NM_001407974.1:c.390C>A
  • NM_001407975.1:c.390C>A
  • NM_001407976.1:c.390C>A
  • NM_001407977.1:c.390C>A
  • NM_001407978.1:c.390C>A
  • NM_001407979.1:c.390C>A
  • NM_001407980.1:c.390C>A
  • NM_001407981.1:c.390C>A
  • NM_001407982.1:c.390C>A
  • NM_001407983.1:c.390C>A
  • NM_001407984.1:c.390C>A
  • NM_001407985.1:c.390C>A
  • NM_001407986.1:c.390C>A
  • NM_001407990.1:c.390C>A
  • NM_001407991.1:c.390C>A
  • NM_001407992.1:c.390C>A
  • NM_001407993.1:c.390C>A
  • NM_001408392.1:c.390C>A
  • NM_001408396.1:c.390C>A
  • NM_001408397.1:c.390C>A
  • NM_001408398.1:c.390C>A
  • NM_001408399.1:c.390C>A
  • NM_001408400.1:c.390C>A
  • NM_001408401.1:c.390C>A
  • NM_001408402.1:c.390C>A
  • NM_001408403.1:c.390C>A
  • NM_001408404.1:c.390C>A
  • NM_001408406.1:c.390C>A
  • NM_001408407.1:c.390C>A
  • NM_001408408.1:c.381C>A
  • NM_001408409.1:c.312C>A
  • NM_001408410.1:c.249C>A
  • NM_001408411.1:c.312C>A
  • NM_001408412.1:c.312C>A
  • NM_001408413.1:c.312C>A
  • NM_001408414.1:c.312C>A
  • NM_001408415.1:c.312C>A
  • NM_001408416.1:c.312C>A
  • NM_001408418.1:c.390C>A
  • NM_001408419.1:c.390C>A
  • NM_001408420.1:c.390C>A
  • NM_001408421.1:c.390C>A
  • NM_001408422.1:c.390C>A
  • NM_001408423.1:c.390C>A
  • NM_001408424.1:c.390C>A
  • NM_001408425.1:c.390C>A
  • NM_001408426.1:c.390C>A
  • NM_001408427.1:c.390C>A
  • NM_001408428.1:c.390C>A
  • NM_001408429.1:c.390C>A
  • NM_001408430.1:c.390C>A
  • NM_001408431.1:c.390C>A
  • NM_001408432.1:c.390C>A
  • NM_001408433.1:c.390C>A
  • NM_001408434.1:c.390C>A
  • NM_001408435.1:c.390C>A
  • NM_001408436.1:c.390C>A
  • NM_001408437.1:c.390C>A
  • NM_001408438.1:c.390C>A
  • NM_001408439.1:c.390C>A
  • NM_001408440.1:c.390C>A
  • NM_001408441.1:c.390C>A
  • NM_001408442.1:c.390C>A
  • NM_001408443.1:c.390C>A
  • NM_001408444.1:c.390C>A
  • NM_001408445.1:c.390C>A
  • NM_001408446.1:c.390C>A
  • NM_001408447.1:c.390C>A
  • NM_001408448.1:c.390C>A
  • NM_001408450.1:c.390C>A
  • NM_001408451.1:c.258C>A
  • NM_001408452.1:c.249C>A
  • NM_001408453.1:c.249C>A
  • NM_001408454.1:c.249C>A
  • NM_001408455.1:c.249C>A
  • NM_001408456.1:c.249C>A
  • NM_001408457.1:c.249C>A
  • NM_001408458.1:c.249C>A
  • NM_001408459.1:c.249C>A
  • NM_001408460.1:c.249C>A
  • NM_001408461.1:c.249C>A
  • NM_001408462.1:c.249C>A
  • NM_001408463.1:c.249C>A
  • NM_001408464.1:c.249C>A
  • NM_001408465.1:c.249C>A
  • NM_001408466.1:c.249C>A
  • NM_001408467.1:c.249C>A
  • NM_001408468.1:c.249C>A
  • NM_001408469.1:c.249C>A
  • NM_001408470.1:c.249C>A
  • NM_001408472.1:c.390C>A
  • NM_001408473.1:c.390C>A
  • NM_001408474.1:c.312C>A
  • NM_001408475.1:c.312C>A
  • NM_001408476.1:c.312C>A
  • NM_001408478.1:c.180C>A
  • NM_001408479.1:c.180C>A
  • NM_001408480.1:c.180C>A
  • NM_001408481.1:c.180C>A
  • NM_001408482.1:c.180C>A
  • NM_001408483.1:c.180C>A
  • NM_001408484.1:c.180C>A
  • NM_001408485.1:c.180C>A
  • NM_001408489.1:c.180C>A
  • NM_001408490.1:c.180C>A
  • NM_001408491.1:c.180C>A
  • NM_001408492.1:c.180C>A
  • NM_001408493.1:c.180C>A
  • NM_001408494.1:c.390C>A
  • NM_001408495.1:c.390C>A
  • NM_001408496.1:c.249C>A
  • NM_001408497.1:c.249C>A
  • NM_001408498.1:c.249C>A
  • NM_001408499.1:c.249C>A
  • NM_001408500.1:c.249C>A
  • NM_001408501.1:c.249C>A
  • NM_001408502.1:c.180C>A
  • NM_001408503.1:c.249C>A
  • NM_001408504.1:c.249C>A
  • NM_001408505.1:c.249C>A
  • NM_001408506.1:c.180C>A
  • NM_001408507.1:c.180C>A
  • NM_001408508.1:c.180C>A
  • NM_001408509.1:c.180C>A
  • NM_001408510.1:c.9C>A
  • NM_001408511.1:c.249C>A
  • NM_001408512.1:c.9C>A
  • NM_001408513.1:c.180C>A
  • NM_001408514.1:c.180C>A
  • NM_007294.4:c.390C>AMANE SELECT
  • NM_007297.4:c.249C>A
  • NM_007298.4:c.390C>A
  • NM_007299.4:c.390C>A
  • NM_007300.4:c.390C>A
  • NM_007304.2:c.390C>A
  • NP_001394500.1:p.Tyr60Ter
  • NP_001394510.1:p.Tyr130Ter
  • NP_001394511.1:p.Tyr130Ter
  • NP_001394512.1:p.Tyr130Ter
  • NP_001394514.1:p.Tyr130Ter
  • NP_001394516.1:p.Tyr130Ter
  • NP_001394519.1:p.Tyr130Ter
  • NP_001394520.1:p.Tyr130Ter
  • NP_001394522.1:p.Tyr130Ter
  • NP_001394523.1:p.Tyr130Ter
  • NP_001394525.1:p.Tyr130Ter
  • NP_001394526.1:p.Tyr130Ter
  • NP_001394527.1:p.Tyr130Ter
  • NP_001394531.1:p.Tyr130Ter
  • NP_001394532.1:p.Tyr130Ter
  • NP_001394534.1:p.Tyr130Ter
  • NP_001394539.1:p.Tyr130Ter
  • NP_001394540.1:p.Tyr130Ter
  • NP_001394541.1:p.Tyr130Ter
  • NP_001394542.1:p.Tyr130Ter
  • NP_001394543.1:p.Tyr130Ter
  • NP_001394544.1:p.Tyr130Ter
  • NP_001394545.1:p.Tyr130Ter
  • NP_001394546.1:p.Tyr130Ter
  • NP_001394547.1:p.Tyr130Ter
  • NP_001394548.1:p.Tyr130Ter
  • NP_001394549.1:p.Tyr130Ter
  • NP_001394550.1:p.Tyr130Ter
  • NP_001394551.1:p.Tyr130Ter
  • NP_001394552.1:p.Tyr130Ter
  • NP_001394553.1:p.Tyr130Ter
  • NP_001394554.1:p.Tyr130Ter
  • NP_001394555.1:p.Tyr130Ter
  • NP_001394556.1:p.Tyr130Ter
  • NP_001394557.1:p.Tyr130Ter
  • NP_001394558.1:p.Tyr130Ter
  • NP_001394559.1:p.Tyr130Ter
  • NP_001394560.1:p.Tyr130Ter
  • NP_001394561.1:p.Tyr130Ter
  • NP_001394562.1:p.Tyr130Ter
  • NP_001394563.1:p.Tyr130Ter
  • NP_001394564.1:p.Tyr130Ter
  • NP_001394565.1:p.Tyr130Ter
  • NP_001394566.1:p.Tyr130Ter
  • NP_001394567.1:p.Tyr130Ter
  • NP_001394568.1:p.Tyr130Ter
  • NP_001394569.1:p.Tyr130Ter
  • NP_001394570.1:p.Tyr130Ter
  • NP_001394571.1:p.Tyr130Ter
  • NP_001394573.1:p.Tyr130Ter
  • NP_001394574.1:p.Tyr130Ter
  • NP_001394575.1:p.Tyr127Ter
  • NP_001394576.1:p.Tyr127Ter
  • NP_001394577.1:p.Tyr130Ter
  • NP_001394578.1:p.Tyr130Ter
  • NP_001394581.1:p.Tyr130Ter
  • NP_001394582.1:p.Tyr104Ter
  • NP_001394583.1:p.Tyr104Ter
  • NP_001394584.1:p.Tyr104Ter
  • NP_001394585.1:p.Tyr104Ter
  • NP_001394586.1:p.Tyr104Ter
  • NP_001394587.1:p.Tyr104Ter
  • NP_001394588.1:p.Tyr104Ter
  • NP_001394589.1:p.Tyr104Ter
  • NP_001394590.1:p.Tyr104Ter
  • NP_001394591.1:p.Tyr104Ter
  • NP_001394592.1:p.Tyr104Ter
  • NP_001394593.1:p.Tyr130Ter
  • NP_001394594.1:p.Tyr130Ter
  • NP_001394595.1:p.Tyr130Ter
  • NP_001394596.1:p.Tyr130Ter
  • NP_001394597.1:p.Tyr130Ter
  • NP_001394598.1:p.Tyr130Ter
  • NP_001394599.1:p.Tyr130Ter
  • NP_001394600.1:p.Tyr130Ter
  • NP_001394601.1:p.Tyr130Ter
  • NP_001394602.1:p.Tyr130Ter
  • NP_001394603.1:p.Tyr130Ter
  • NP_001394604.1:p.Tyr130Ter
  • NP_001394605.1:p.Tyr130Ter
  • NP_001394606.1:p.Tyr130Ter
  • NP_001394607.1:p.Tyr130Ter
  • NP_001394608.1:p.Tyr130Ter
  • NP_001394609.1:p.Tyr130Ter
  • NP_001394610.1:p.Tyr130Ter
  • NP_001394611.1:p.Tyr130Ter
  • NP_001394612.1:p.Tyr130Ter
  • NP_001394613.1:p.Tyr130Ter
  • NP_001394614.1:p.Tyr130Ter
  • NP_001394615.1:p.Tyr130Ter
  • NP_001394616.1:p.Tyr130Ter
  • NP_001394617.1:p.Tyr130Ter
  • NP_001394618.1:p.Tyr130Ter
  • NP_001394619.1:p.Tyr130Ter
  • NP_001394620.1:p.Tyr130Ter
  • NP_001394621.1:p.Tyr83Ter
  • NP_001394623.1:p.Tyr83Ter
  • NP_001394624.1:p.Tyr83Ter
  • NP_001394625.1:p.Tyr83Ter
  • NP_001394626.1:p.Tyr83Ter
  • NP_001394627.1:p.Tyr83Ter
  • NP_001394653.1:p.Tyr83Ter
  • NP_001394654.1:p.Tyr83Ter
  • NP_001394655.1:p.Tyr83Ter
  • NP_001394656.1:p.Tyr83Ter
  • NP_001394657.1:p.Tyr83Ter
  • NP_001394658.1:p.Tyr83Ter
  • NP_001394659.1:p.Tyr83Ter
  • NP_001394660.1:p.Tyr83Ter
  • NP_001394661.1:p.Tyr83Ter
  • NP_001394662.1:p.Tyr83Ter
  • NP_001394663.1:p.Tyr83Ter
  • NP_001394664.1:p.Tyr83Ter
  • NP_001394665.1:p.Tyr83Ter
  • NP_001394666.1:p.Tyr83Ter
  • NP_001394667.1:p.Tyr83Ter
  • NP_001394668.1:p.Tyr83Ter
  • NP_001394669.1:p.Tyr83Ter
  • NP_001394670.1:p.Tyr83Ter
  • NP_001394671.1:p.Tyr83Ter
  • NP_001394672.1:p.Tyr83Ter
  • NP_001394673.1:p.Tyr83Ter
  • NP_001394674.1:p.Tyr83Ter
  • NP_001394675.1:p.Tyr83Ter
  • NP_001394676.1:p.Tyr83Ter
  • NP_001394677.1:p.Tyr83Ter
  • NP_001394678.1:p.Tyr83Ter
  • NP_001394679.1:p.Tyr83Ter
  • NP_001394680.1:p.Tyr83Ter
  • NP_001394681.1:p.Tyr83Ter
  • NP_001394767.1:p.Tyr83Ter
  • NP_001394768.1:p.Tyr83Ter
  • NP_001394770.1:p.Tyr83Ter
  • NP_001394771.1:p.Tyr83Ter
  • NP_001394772.1:p.Tyr83Ter
  • NP_001394773.1:p.Tyr83Ter
  • NP_001394774.1:p.Tyr83Ter
  • NP_001394775.1:p.Tyr83Ter
  • NP_001394776.1:p.Tyr83Ter
  • NP_001394777.1:p.Tyr83Ter
  • NP_001394778.1:p.Tyr83Ter
  • NP_001394779.1:p.Tyr83Ter
  • NP_001394780.1:p.Tyr83Ter
  • NP_001394781.1:p.Tyr83Ter
  • NP_001394782.1:p.Tyr60Ter
  • NP_001394783.1:p.Tyr130Ter
  • NP_001394787.1:p.Tyr130Ter
  • NP_001394788.1:p.Tyr130Ter
  • NP_001394789.1:p.Tyr130Ter
  • NP_001394790.1:p.Tyr130Ter
  • NP_001394791.1:p.Tyr104Ter
  • NP_001394792.1:p.Tyr130Ter
  • NP_001394803.1:p.Tyr104Ter
  • NP_001394804.1:p.Tyr104Ter
  • NP_001394808.1:p.Tyr60Ter
  • NP_001394810.1:p.Tyr60Ter
  • NP_001394811.1:p.Tyr60Ter
  • NP_001394813.1:p.Tyr60Ter
  • NP_001394814.1:p.Tyr60Ter
  • NP_001394815.1:p.Tyr60Ter
  • NP_001394816.1:p.Tyr60Ter
  • NP_001394818.1:p.Tyr60Ter
  • NP_001394823.1:p.Tyr60Ter
  • NP_001394824.1:p.Tyr60Ter
  • NP_001394825.1:p.Tyr60Ter
  • NP_001394826.1:p.Tyr60Ter
  • NP_001394827.1:p.Tyr60Ter
  • NP_001394828.1:p.Tyr60Ter
  • NP_001394829.1:p.Tyr60Ter
  • NP_001394831.1:p.Tyr60Ter
  • NP_001394833.1:p.Tyr60Ter
  • NP_001394835.1:p.Tyr60Ter
  • NP_001394836.1:p.Tyr60Ter
  • NP_001394837.1:p.Tyr60Ter
  • NP_001394838.1:p.Tyr60Ter
  • NP_001394839.1:p.Tyr60Ter
  • NP_001394844.1:p.Tyr60Ter
  • NP_001394845.1:p.Tyr60Ter
  • NP_001394846.1:p.Tyr60Ter
  • NP_001394847.1:p.Tyr60Ter
  • NP_001394848.1:p.Tyr130Ter
  • NP_001394849.1:p.Tyr83Ter
  • NP_001394850.1:p.Tyr83Ter
  • NP_001394851.1:p.Tyr83Ter
  • NP_001394852.1:p.Tyr83Ter
  • NP_001394853.1:p.Tyr83Ter
  • NP_001394854.1:p.Tyr83Ter
  • NP_001394855.1:p.Tyr83Ter
  • NP_001394856.1:p.Tyr83Ter
  • NP_001394857.1:p.Tyr83Ter
  • NP_001394858.1:p.Tyr83Ter
  • NP_001394859.1:p.Tyr83Ter
  • NP_001394860.1:p.Tyr83Ter
  • NP_001394861.1:p.Tyr83Ter
  • NP_001394862.1:p.Tyr83Ter
  • NP_001394863.1:p.Tyr83Ter
  • NP_001394864.1:p.Tyr83Ter
  • NP_001394865.1:p.Tyr83Ter
  • NP_001394866.1:p.Tyr130Ter
  • NP_001394867.1:p.Tyr130Ter
  • NP_001394868.1:p.Tyr130Ter
  • NP_001394869.1:p.Tyr130Ter
  • NP_001394870.1:p.Tyr130Ter
  • NP_001394871.1:p.Tyr83Ter
  • NP_001394872.1:p.Tyr83Ter
  • NP_001394873.1:p.Tyr83Ter
  • NP_001394874.1:p.Tyr83Ter
  • NP_001394875.1:p.Tyr60Ter
  • NP_001394876.1:p.Tyr60Ter
  • NP_001394877.1:p.Tyr60Ter
  • NP_001394878.1:p.Tyr60Ter
  • NP_001394879.1:p.Tyr60Ter
  • NP_001394880.1:p.Tyr60Ter
  • NP_001394881.1:p.Tyr60Ter
  • NP_001394882.1:p.Tyr60Ter
  • NP_001394883.1:p.Tyr60Ter
  • NP_001394884.1:p.Tyr60Ter
  • NP_001394885.1:p.Tyr60Ter
  • NP_001394886.1:p.Tyr60Ter
  • NP_001394887.1:p.Tyr60Ter
  • NP_001394888.1:p.Tyr3Ter
  • NP_001394889.1:p.Tyr3Ter
  • NP_001394891.1:p.Tyr3Ter
  • NP_001394892.1:p.Tyr3Ter
  • NP_001394893.1:p.Tyr83Ter
  • NP_001394894.1:p.Tyr3Ter
  • NP_001394897.1:p.Tyr130Ter
  • NP_001394898.1:p.Tyr130Ter
  • NP_001394899.1:p.Tyr130Ter
  • NP_001394900.1:p.Tyr130Ter
  • NP_001394901.1:p.Tyr130Ter
  • NP_001394902.1:p.Tyr130Ter
  • NP_001394903.1:p.Tyr130Ter
  • NP_001394904.1:p.Tyr130Ter
  • NP_001394905.1:p.Tyr130Ter
  • NP_001394906.1:p.Tyr130Ter
  • NP_001394907.1:p.Tyr130Ter
  • NP_001394908.1:p.Tyr130Ter
  • NP_001394909.1:p.Tyr130Ter
  • NP_001394910.1:p.Tyr130Ter
  • NP_001394911.1:p.Tyr130Ter
  • NP_001394912.1:p.Tyr130Ter
  • NP_001394913.1:p.Tyr130Ter
  • NP_001394914.1:p.Tyr130Ter
  • NP_001394915.1:p.Tyr130Ter
  • NP_001394919.1:p.Tyr130Ter
  • NP_001394920.1:p.Tyr130Ter
  • NP_001394921.1:p.Tyr130Ter
  • NP_001394922.1:p.Tyr130Ter
  • NP_001395321.1:p.Tyr130Ter
  • NP_001395325.1:p.Tyr130Ter
  • NP_001395326.1:p.Tyr130Ter
  • NP_001395327.1:p.Tyr130Ter
  • NP_001395328.1:p.Tyr130Ter
  • NP_001395329.1:p.Tyr130Ter
  • NP_001395330.1:p.Tyr130Ter
  • NP_001395331.1:p.Tyr130Ter
  • NP_001395332.1:p.Tyr130Ter
  • NP_001395333.1:p.Tyr130Ter
  • NP_001395335.1:p.Tyr130Ter
  • NP_001395336.1:p.Tyr130Ter
  • NP_001395337.1:p.Tyr127Ter
  • NP_001395338.1:p.Tyr104Ter
  • NP_001395339.1:p.Tyr83Ter
  • NP_001395340.1:p.Tyr104Ter
  • NP_001395341.1:p.Tyr104Ter
  • NP_001395342.1:p.Tyr104Ter
  • NP_001395343.1:p.Tyr104Ter
  • NP_001395344.1:p.Tyr104Ter
  • NP_001395345.1:p.Tyr104Ter
  • NP_001395347.1:p.Tyr130Ter
  • NP_001395348.1:p.Tyr130Ter
  • NP_001395349.1:p.Tyr130Ter
  • NP_001395350.1:p.Tyr130Ter
  • NP_001395351.1:p.Tyr130Ter
  • NP_001395352.1:p.Tyr130Ter
  • NP_001395353.1:p.Tyr130Ter
  • NP_001395354.1:p.Tyr130Ter
  • NP_001395355.1:p.Tyr130Ter
  • NP_001395356.1:p.Tyr130Ter
  • NP_001395357.1:p.Tyr130Ter
  • NP_001395358.1:p.Tyr130Ter
  • NP_001395359.1:p.Tyr130Ter
  • NP_001395360.1:p.Tyr130Ter
  • NP_001395361.1:p.Tyr130Ter
  • NP_001395362.1:p.Tyr130Ter
  • NP_001395363.1:p.Tyr130Ter
  • NP_001395364.1:p.Tyr130Ter
  • NP_001395365.1:p.Tyr130Ter
  • NP_001395366.1:p.Tyr130Ter
  • NP_001395367.1:p.Tyr130Ter
  • NP_001395368.1:p.Tyr130Ter
  • NP_001395369.1:p.Tyr130Ter
  • NP_001395370.1:p.Tyr130Ter
  • NP_001395371.1:p.Tyr130Ter
  • NP_001395372.1:p.Tyr130Ter
  • NP_001395373.1:p.Tyr130Ter
  • NP_001395374.1:p.Tyr130Ter
  • NP_001395375.1:p.Tyr130Ter
  • NP_001395376.1:p.Tyr130Ter
  • NP_001395377.1:p.Tyr130Ter
  • NP_001395379.1:p.Tyr130Ter
  • NP_001395380.1:p.Tyr86Ter
  • NP_001395381.1:p.Tyr83Ter
  • NP_001395382.1:p.Tyr83Ter
  • NP_001395383.1:p.Tyr83Ter
  • NP_001395384.1:p.Tyr83Ter
  • NP_001395385.1:p.Tyr83Ter
  • NP_001395386.1:p.Tyr83Ter
  • NP_001395387.1:p.Tyr83Ter
  • NP_001395388.1:p.Tyr83Ter
  • NP_001395389.1:p.Tyr83Ter
  • NP_001395390.1:p.Tyr83Ter
  • NP_001395391.1:p.Tyr83Ter
  • NP_001395392.1:p.Tyr83Ter
  • NP_001395393.1:p.Tyr83Ter
  • NP_001395394.1:p.Tyr83Ter
  • NP_001395395.1:p.Tyr83Ter
  • NP_001395396.1:p.Tyr83Ter
  • NP_001395397.1:p.Tyr83Ter
  • NP_001395398.1:p.Tyr83Ter
  • NP_001395399.1:p.Tyr83Ter
  • NP_001395401.1:p.Tyr130Ter
  • NP_001395402.1:p.Tyr130Ter
  • NP_001395403.1:p.Tyr104Ter
  • NP_001395404.1:p.Tyr104Ter
  • NP_001395405.1:p.Tyr104Ter
  • NP_001395407.1:p.Tyr60Ter
  • NP_001395408.1:p.Tyr60Ter
  • NP_001395409.1:p.Tyr60Ter
  • NP_001395410.1:p.Tyr60Ter
  • NP_001395411.1:p.Tyr60Ter
  • NP_001395412.1:p.Tyr60Ter
  • NP_001395413.1:p.Tyr60Ter
  • NP_001395414.1:p.Tyr60Ter
  • NP_001395418.1:p.Tyr60Ter
  • NP_001395419.1:p.Tyr60Ter
  • NP_001395420.1:p.Tyr60Ter
  • NP_001395421.1:p.Tyr60Ter
  • NP_001395422.1:p.Tyr60Ter
  • NP_001395423.1:p.Tyr130Ter
  • NP_001395424.1:p.Tyr130Ter
  • NP_001395425.1:p.Tyr83Ter
  • NP_001395426.1:p.Tyr83Ter
  • NP_001395427.1:p.Tyr83Ter
  • NP_001395428.1:p.Tyr83Ter
  • NP_001395429.1:p.Tyr83Ter
  • NP_001395430.1:p.Tyr83Ter
  • NP_001395431.1:p.Tyr60Ter
  • NP_001395432.1:p.Tyr83Ter
  • NP_001395433.1:p.Tyr83Ter
  • NP_001395434.1:p.Tyr83Ter
  • NP_001395435.1:p.Tyr60Ter
  • NP_001395436.1:p.Tyr60Ter
  • NP_001395437.1:p.Tyr60Ter
  • NP_001395438.1:p.Tyr60Ter
  • NP_001395439.1:p.Tyr3Ter
  • NP_001395440.1:p.Tyr83Ter
  • NP_001395441.1:p.Tyr3Ter
  • NP_001395442.1:p.Tyr60Ter
  • NP_001395443.1:p.Tyr60Ter
  • NP_009225.1:p.Tyr130Ter
  • NP_009225.1:p.Tyr130Ter
  • NP_009228.2:p.Tyr83Ter
  • NP_009229.2:p.Tyr130Ter
  • NP_009229.2:p.Tyr130Ter
  • NP_009230.2:p.Tyr130Ter
  • NP_009231.2:p.Tyr130Ter
  • NP_009235.2:p.Tyr130Ter
  • LRG_292t1:c.390C>A
  • LRG_292:g.113811C>A
  • LRG_292p1:p.Tyr130Ter
  • NC_000017.10:g.41256190G>T
  • NM_007294.3:c.390C>A
  • NM_007298.3:c.390C>A
  • NR_027676.2:n.570C>A
  • U14680.1:n.509C>A
  • p.Tyr130*
  • p.Y130*
Protein change:
Y104*
Links:
dbSNP: rs80356888
NCBI 1000 Genomes Browser:
rs80356888
Molecular consequence:
  • NR_027676.2:n.570C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.381C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.381C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.381C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.258C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.312C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.9C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.249C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591261Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

SCV002046567Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jan 7, 2021) 		unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV004026820Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 15, 2023) 		germlineclinical testing

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
not providedunknownyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Kroiss R, Winkler V, Bikas D, Fleischmann E, Mainau C, Frommlet F, Muhr D, Fuerhauser C, Tea M, Bittner B, Kubista E, Oefner PJ, Bauer P, Wagner TM; Austrian Hereditary Breast and Ovarian Cancer Group..

Hum Mutat. 2005 Dec;26(6):583-9.

PubMed [citation]
PMID:
16287141
See all PubMed Citations (9)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591261.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in individuals affected with breast and/or ovarian cancer in the published literature (PMIDs: 16287141 (2005), 29020732 (2018), 30287823 (2018), 30309222 (2019), and 30350268 (2019)). The frequency of this variant in the general population is consistent with pathogenicity. This variant has been shown to be damaging to protein function relevant to disease mechanism (PMID: 25823446). Therefore, the variant is classified as pathogenic.

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004026820.1

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

Last Updated: Sep 29, 2024