NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Malignant tumor of breast
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001353667.10
Allele description [Variation Report for NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)]
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
- 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.505C>T (p.Gln169Ter)
- HGVS:
- NC_000017.11:g.43099817G>A
- NG_005905.2:g.118167C>T
- NM_001407571.1:c.292C>T
- NM_001407581.1:c.505C>T
- NM_001407582.1:c.505C>T
- NM_001407583.1:c.505C>T
- NM_001407585.1:c.505C>T
- NM_001407587.1:c.502C>T
- NM_001407590.1:c.502C>T
- NM_001407591.1:c.502C>T
- NM_001407593.1:c.505C>T
- NM_001407594.1:c.505C>T
- NM_001407596.1:c.505C>T
- NM_001407597.1:c.505C>T
- NM_001407598.1:c.505C>T
- NM_001407602.1:c.505C>T
- NM_001407603.1:c.505C>T
- NM_001407605.1:c.505C>T
- NM_001407610.1:c.502C>T
- NM_001407611.1:c.502C>T
- NM_001407612.1:c.502C>T
- NM_001407613.1:c.502C>T
- NM_001407614.1:c.502C>T
- NM_001407615.1:c.502C>T
- NM_001407616.1:c.505C>T
- NM_001407617.1:c.505C>T
- NM_001407618.1:c.505C>T
- NM_001407619.1:c.505C>T
- NM_001407620.1:c.505C>T
- NM_001407621.1:c.505C>T
- NM_001407622.1:c.505C>T
- NM_001407623.1:c.505C>T
- NM_001407624.1:c.505C>T
- NM_001407625.1:c.505C>T
- NM_001407626.1:c.505C>T
- NM_001407627.1:c.502C>T
- NM_001407628.1:c.502C>T
- NM_001407629.1:c.502C>T
- NM_001407630.1:c.502C>T
- NM_001407631.1:c.502C>T
- NM_001407632.1:c.502C>T
- NM_001407633.1:c.502C>T
- NM_001407634.1:c.502C>T
- NM_001407635.1:c.502C>T
- NM_001407636.1:c.502C>T
- NM_001407637.1:c.502C>T
- NM_001407638.1:c.502C>T
- NM_001407639.1:c.505C>T
- NM_001407640.1:c.505C>T
- NM_001407641.1:c.505C>T
- NM_001407642.1:c.505C>T
- NM_001407644.1:c.502C>T
- NM_001407645.1:c.502C>T
- NM_001407646.1:c.496C>T
- NM_001407647.1:c.496C>T
- NM_001407648.1:c.505C>T
- NM_001407649.1:c.502C>T
- NM_001407652.1:c.505C>T
- NM_001407653.1:c.427C>T
- NM_001407654.1:c.427C>T
- NM_001407655.1:c.427C>T
- NM_001407656.1:c.427C>T
- NM_001407657.1:c.427C>T
- NM_001407658.1:c.427C>T
- NM_001407659.1:c.424C>T
- NM_001407660.1:c.424C>T
- NM_001407661.1:c.424C>T
- NM_001407662.1:c.424C>T
- NM_001407663.1:c.427C>T
- NM_001407664.1:c.505C>T
- NM_001407665.1:c.505C>T
- NM_001407666.1:c.505C>T
- NM_001407667.1:c.505C>T
- NM_001407668.1:c.505C>T
- NM_001407669.1:c.505C>T
- NM_001407670.1:c.502C>T
- NM_001407671.1:c.502C>T
- NM_001407672.1:c.502C>T
- NM_001407673.1:c.502C>T
- NM_001407674.1:c.505C>T
- NM_001407675.1:c.505C>T
- NM_001407676.1:c.505C>T
- NM_001407677.1:c.505C>T
- NM_001407678.1:c.505C>T
- NM_001407679.1:c.505C>T
- NM_001407680.1:c.505C>T
- NM_001407681.1:c.505C>T
- NM_001407682.1:c.505C>T
- NM_001407683.1:c.505C>T
- NM_001407684.1:c.505C>T
- NM_001407685.1:c.502C>T
- NM_001407686.1:c.502C>T
- NM_001407687.1:c.502C>T
- NM_001407688.1:c.502C>T
- NM_001407689.1:c.502C>T
- NM_001407690.1:c.502C>T
- NM_001407691.1:c.502C>T
- NM_001407692.1:c.364C>T
- NM_001407694.1:c.364C>T
- NM_001407695.1:c.364C>T
- NM_001407696.1:c.364C>T
- NM_001407697.1:c.364C>T
- NM_001407698.1:c.364C>T
- NM_001407724.1:c.364C>T
- NM_001407725.1:c.364C>T
- NM_001407726.1:c.364C>T
- NM_001407727.1:c.364C>T
- NM_001407728.1:c.364C>T
- NM_001407729.1:c.364C>T
- NM_001407730.1:c.364C>T
- NM_001407731.1:c.364C>T
- NM_001407732.1:c.364C>T
- NM_001407733.1:c.364C>T
- NM_001407734.1:c.364C>T
- NM_001407735.1:c.364C>T
- NM_001407736.1:c.364C>T
- NM_001407737.1:c.364C>T
- NM_001407738.1:c.364C>T
- NM_001407739.1:c.364C>T
- NM_001407740.1:c.361C>T
- NM_001407741.1:c.361C>T
- NM_001407742.1:c.361C>T
- NM_001407743.1:c.361C>T
- NM_001407744.1:c.361C>T
- NM_001407745.1:c.361C>T
- NM_001407746.1:c.361C>T
- NM_001407747.1:c.361C>T
- NM_001407748.1:c.361C>T
- NM_001407749.1:c.361C>T
- NM_001407750.1:c.364C>T
- NM_001407751.1:c.364C>T
- NM_001407752.1:c.364C>T
- NM_001407838.1:c.361C>T
- NM_001407839.1:c.361C>T
- NM_001407841.1:c.361C>T
- NM_001407842.1:c.361C>T
- NM_001407843.1:c.361C>T
- NM_001407844.1:c.361C>T
- NM_001407845.1:c.361C>T
- NM_001407846.1:c.361C>T
- NM_001407847.1:c.361C>T
- NM_001407848.1:c.361C>T
- NM_001407849.1:c.361C>T
- NM_001407850.1:c.364C>T
- NM_001407851.1:c.364C>T
- NM_001407852.1:c.364C>T
- NM_001407853.1:c.292C>T
- NM_001407854.1:c.505C>T
- NM_001407858.1:c.505C>T
- NM_001407859.1:c.505C>T
- NM_001407860.1:c.502C>T
- NM_001407861.1:c.502C>T
- NM_001407862.1:c.427C>T
- NM_001407863.1:c.505C>T
- NM_001407874.1:c.424C>T
- NM_001407875.1:c.424C>T
- NM_001407879.1:c.295C>T
- NM_001407881.1:c.295C>T
- NM_001407882.1:c.295C>T
- NM_001407884.1:c.295C>T
- NM_001407885.1:c.295C>T
- NM_001407886.1:c.295C>T
- NM_001407887.1:c.295C>T
- NM_001407889.1:c.295C>T
- NM_001407894.1:c.292C>T
- NM_001407895.1:c.292C>T
- NM_001407896.1:c.292C>T
- NM_001407897.1:c.292C>T
- NM_001407898.1:c.292C>T
- NM_001407899.1:c.292C>T
- NM_001407900.1:c.295C>T
- NM_001407902.1:c.295C>T
- NM_001407904.1:c.295C>T
- NM_001407906.1:c.295C>T
- NM_001407907.1:c.295C>T
- NM_001407908.1:c.295C>T
- NM_001407909.1:c.295C>T
- NM_001407910.1:c.295C>T
- NM_001407915.1:c.292C>T
- NM_001407916.1:c.292C>T
- NM_001407917.1:c.292C>T
- NM_001407918.1:c.292C>T
- NM_001407919.1:c.505C>T
- NM_001407920.1:c.364C>T
- NM_001407921.1:c.364C>T
- NM_001407922.1:c.364C>T
- NM_001407923.1:c.364C>T
- NM_001407924.1:c.364C>T
- NM_001407925.1:c.364C>T
- NM_001407926.1:c.364C>T
- NM_001407927.1:c.364C>T
- NM_001407928.1:c.364C>T
- NM_001407929.1:c.364C>T
- NM_001407930.1:c.361C>T
- NM_001407931.1:c.361C>T
- NM_001407932.1:c.361C>T
- NM_001407933.1:c.364C>T
- NM_001407934.1:c.361C>T
- NM_001407935.1:c.364C>T
- NM_001407936.1:c.361C>T
- NM_001407937.1:c.505C>T
- NM_001407938.1:c.505C>T
- NM_001407939.1:c.505C>T
- NM_001407940.1:c.502C>T
- NM_001407941.1:c.502C>T
- NM_001407942.1:c.364C>T
- NM_001407943.1:c.361C>T
- NM_001407944.1:c.364C>T
- NM_001407945.1:c.364C>T
- NM_001407946.1:c.295C>T
- NM_001407947.1:c.295C>T
- NM_001407948.1:c.295C>T
- NM_001407949.1:c.295C>T
- NM_001407950.1:c.295C>T
- NM_001407951.1:c.295C>T
- NM_001407952.1:c.295C>T
- NM_001407953.1:c.295C>T
- NM_001407954.1:c.292C>T
- NM_001407955.1:c.292C>T
- NM_001407956.1:c.292C>T
- NM_001407957.1:c.295C>T
- NM_001407958.1:c.292C>T
- NM_001407959.1:c.124C>T
- NM_001407960.1:c.124C>T
- NM_001407962.1:c.121C>T
- NM_001407963.1:c.124C>T
- NM_001407964.1:c.361C>T
- NM_001407965.1:c.124C>T
- NM_001407968.1:c.505C>T
- NM_001407969.1:c.505C>T
- NM_001407970.1:c.505C>T
- NM_001407971.1:c.505C>T
- NM_001407972.1:c.502C>T
- NM_001407973.1:c.505C>T
- NM_001407974.1:c.505C>T
- NM_001407975.1:c.505C>T
- NM_001407976.1:c.505C>T
- NM_001407977.1:c.505C>T
- NM_001407978.1:c.505C>T
- NM_001407979.1:c.505C>T
- NM_001407980.1:c.505C>T
- NM_001407981.1:c.505C>T
- NM_001407982.1:c.505C>T
- NM_001407983.1:c.505C>T
- NM_001407984.1:c.502C>T
- NM_001407985.1:c.502C>T
- NM_001407986.1:c.502C>T
- NM_001407990.1:c.505C>T
- NM_001407991.1:c.502C>T
- NM_001407992.1:c.502C>T
- NM_001407993.1:c.505C>T
- NM_001408392.1:c.502C>T
- NM_001408396.1:c.502C>T
- NM_001408397.1:c.502C>T
- NM_001408398.1:c.502C>T
- NM_001408399.1:c.502C>T
- NM_001408400.1:c.502C>T
- NM_001408401.1:c.502C>T
- NM_001408402.1:c.502C>T
- NM_001408403.1:c.505C>T
- NM_001408404.1:c.505C>T
- NM_001408406.1:c.505C>T
- NM_001408407.1:c.502C>T
- NM_001408408.1:c.496C>T
- NM_001408409.1:c.427C>T
- NM_001408410.1:c.364C>T
- NM_001408411.1:c.427C>T
- NM_001408412.1:c.427C>T
- NM_001408413.1:c.424C>T
- NM_001408414.1:c.427C>T
- NM_001408415.1:c.427C>T
- NM_001408416.1:c.424C>T
- NM_001408418.1:c.505C>T
- NM_001408419.1:c.505C>T
- NM_001408420.1:c.505C>T
- NM_001408421.1:c.502C>T
- NM_001408422.1:c.505C>T
- NM_001408423.1:c.505C>T
- NM_001408424.1:c.502C>T
- NM_001408425.1:c.505C>T
- NM_001408426.1:c.505C>T
- NM_001408427.1:c.505C>T
- NM_001408428.1:c.505C>T
- NM_001408429.1:c.505C>T
- NM_001408430.1:c.505C>T
- NM_001408431.1:c.502C>T
- NM_001408432.1:c.502C>T
- NM_001408433.1:c.502C>T
- NM_001408434.1:c.502C>T
- NM_001408435.1:c.502C>T
- NM_001408436.1:c.505C>T
- NM_001408437.1:c.505C>T
- NM_001408438.1:c.505C>T
- NM_001408439.1:c.505C>T
- NM_001408440.1:c.505C>T
- NM_001408441.1:c.505C>T
- NM_001408442.1:c.505C>T
- NM_001408443.1:c.505C>T
- NM_001408444.1:c.505C>T
- NM_001408445.1:c.502C>T
- NM_001408446.1:c.502C>T
- NM_001408447.1:c.502C>T
- NM_001408448.1:c.502C>T
- NM_001408450.1:c.502C>T
- NM_001408451.1:c.370C>T
- NM_001408452.1:c.364C>T
- NM_001408453.1:c.364C>T
- NM_001408454.1:c.364C>T
- NM_001408455.1:c.364C>T
- NM_001408456.1:c.364C>T
- NM_001408457.1:c.364C>T
- NM_001408458.1:c.364C>T
- NM_001408459.1:c.364C>T
- NM_001408460.1:c.364C>T
- NM_001408461.1:c.364C>T
- NM_001408462.1:c.361C>T
- NM_001408463.1:c.361C>T
- NM_001408464.1:c.361C>T
- NM_001408465.1:c.361C>T
- NM_001408466.1:c.364C>T
- NM_001408467.1:c.364C>T
- NM_001408468.1:c.361C>T
- NM_001408469.1:c.364C>T
- NM_001408470.1:c.361C>T
- NM_001408472.1:c.505C>T
- NM_001408473.1:c.502C>T
- NM_001408474.1:c.427C>T
- NM_001408475.1:c.424C>T
- NM_001408476.1:c.427C>T
- NM_001408478.1:c.295C>T
- NM_001408479.1:c.295C>T
- NM_001408480.1:c.295C>T
- NM_001408481.1:c.295C>T
- NM_001408482.1:c.295C>T
- NM_001408483.1:c.295C>T
- NM_001408484.1:c.295C>T
- NM_001408485.1:c.295C>T
- NM_001408489.1:c.295C>T
- NM_001408490.1:c.292C>T
- NM_001408491.1:c.292C>T
- NM_001408492.1:c.295C>T
- NM_001408493.1:c.292C>T
- NM_001408494.1:c.505C>T
- NM_001408495.1:c.502C>T
- NM_001408496.1:c.364C>T
- NM_001408497.1:c.364C>T
- NM_001408498.1:c.364C>T
- NM_001408499.1:c.364C>T
- NM_001408500.1:c.364C>T
- NM_001408501.1:c.364C>T
- NM_001408502.1:c.295C>T
- NM_001408503.1:c.361C>T
- NM_001408504.1:c.361C>T
- NM_001408505.1:c.361C>T
- NM_001408506.1:c.295C>T
- NM_001408507.1:c.295C>T
- NM_001408508.1:c.292C>T
- NM_001408509.1:c.292C>T
- NM_001408510.1:c.124C>T
- NM_001408511.1:c.361C>T
- NM_001408512.1:c.124C>T
- NM_001408513.1:c.295C>T
- NM_001408514.1:c.295C>T
- NM_007294.4:c.505C>TMANE SELECT
- NM_007297.4:c.364C>T
- NM_007298.4:c.505C>T
- NM_007299.4:c.505C>T
- NM_007300.4:c.505C>T
- NM_007304.2:c.505C>T
- NP_001394500.1:p.Gln98Ter
- NP_001394510.1:p.Gln169Ter
- NP_001394511.1:p.Gln169Ter
- NP_001394512.1:p.Gln169Ter
- NP_001394514.1:p.Gln169Ter
- NP_001394516.1:p.Gln168Ter
- NP_001394519.1:p.Gln168Ter
- NP_001394520.1:p.Gln168Ter
- NP_001394522.1:p.Gln169Ter
- NP_001394523.1:p.Gln169Ter
- NP_001394525.1:p.Gln169Ter
- NP_001394526.1:p.Gln169Ter
- NP_001394527.1:p.Gln169Ter
- NP_001394531.1:p.Gln169Ter
- NP_001394532.1:p.Gln169Ter
- NP_001394534.1:p.Gln169Ter
- NP_001394539.1:p.Gln168Ter
- NP_001394540.1:p.Gln168Ter
- NP_001394541.1:p.Gln168Ter
- NP_001394542.1:p.Gln168Ter
- NP_001394543.1:p.Gln168Ter
- NP_001394544.1:p.Gln168Ter
- NP_001394545.1:p.Gln169Ter
- NP_001394546.1:p.Gln169Ter
- NP_001394547.1:p.Gln169Ter
- NP_001394548.1:p.Gln169Ter
- NP_001394549.1:p.Gln169Ter
- NP_001394550.1:p.Gln169Ter
- NP_001394551.1:p.Gln169Ter
- NP_001394552.1:p.Gln169Ter
- NP_001394553.1:p.Gln169Ter
- NP_001394554.1:p.Gln169Ter
- NP_001394555.1:p.Gln169Ter
- NP_001394556.1:p.Gln168Ter
- NP_001394557.1:p.Gln168Ter
- NP_001394558.1:p.Gln168Ter
- NP_001394559.1:p.Gln168Ter
- NP_001394560.1:p.Gln168Ter
- NP_001394561.1:p.Gln168Ter
- NP_001394562.1:p.Gln168Ter
- NP_001394563.1:p.Gln168Ter
- NP_001394564.1:p.Gln168Ter
- NP_001394565.1:p.Gln168Ter
- NP_001394566.1:p.Gln168Ter
- NP_001394567.1:p.Gln168Ter
- NP_001394568.1:p.Gln169Ter
- NP_001394569.1:p.Gln169Ter
- NP_001394570.1:p.Gln169Ter
- NP_001394571.1:p.Gln169Ter
- NP_001394573.1:p.Gln168Ter
- NP_001394574.1:p.Gln168Ter
- NP_001394575.1:p.Gln166Ter
- NP_001394576.1:p.Gln166Ter
- NP_001394577.1:p.Gln169Ter
- NP_001394578.1:p.Gln168Ter
- NP_001394581.1:p.Gln169Ter
- NP_001394582.1:p.Gln143Ter
- NP_001394583.1:p.Gln143Ter
- NP_001394584.1:p.Gln143Ter
- NP_001394585.1:p.Gln143Ter
- NP_001394586.1:p.Gln143Ter
- NP_001394587.1:p.Gln143Ter
- NP_001394588.1:p.Gln142Ter
- NP_001394589.1:p.Gln142Ter
- NP_001394590.1:p.Gln142Ter
- NP_001394591.1:p.Gln142Ter
- NP_001394592.1:p.Gln143Ter
- NP_001394593.1:p.Gln169Ter
- NP_001394594.1:p.Gln169Ter
- NP_001394595.1:p.Gln169Ter
- NP_001394596.1:p.Gln169Ter
- NP_001394597.1:p.Gln169Ter
- NP_001394598.1:p.Gln169Ter
- NP_001394599.1:p.Gln168Ter
- NP_001394600.1:p.Gln168Ter
- NP_001394601.1:p.Gln168Ter
- NP_001394602.1:p.Gln168Ter
- NP_001394603.1:p.Gln169Ter
- NP_001394604.1:p.Gln169Ter
- NP_001394605.1:p.Gln169Ter
- NP_001394606.1:p.Gln169Ter
- NP_001394607.1:p.Gln169Ter
- NP_001394608.1:p.Gln169Ter
- NP_001394609.1:p.Gln169Ter
- NP_001394610.1:p.Gln169Ter
- NP_001394611.1:p.Gln169Ter
- NP_001394612.1:p.Gln169Ter
- NP_001394613.1:p.Gln169Ter
- NP_001394614.1:p.Gln168Ter
- NP_001394615.1:p.Gln168Ter
- NP_001394616.1:p.Gln168Ter
- NP_001394617.1:p.Gln168Ter
- NP_001394618.1:p.Gln168Ter
- NP_001394619.1:p.Gln168Ter
- NP_001394620.1:p.Gln168Ter
- NP_001394621.1:p.Gln122Ter
- NP_001394623.1:p.Gln122Ter
- NP_001394624.1:p.Gln122Ter
- NP_001394625.1:p.Gln122Ter
- NP_001394626.1:p.Gln122Ter
- NP_001394627.1:p.Gln122Ter
- NP_001394653.1:p.Gln122Ter
- NP_001394654.1:p.Gln122Ter
- NP_001394655.1:p.Gln122Ter
- NP_001394656.1:p.Gln122Ter
- NP_001394657.1:p.Gln122Ter
- NP_001394658.1:p.Gln122Ter
- NP_001394659.1:p.Gln122Ter
- NP_001394660.1:p.Gln122Ter
- NP_001394661.1:p.Gln122Ter
- NP_001394662.1:p.Gln122Ter
- NP_001394663.1:p.Gln122Ter
- NP_001394664.1:p.Gln122Ter
- NP_001394665.1:p.Gln122Ter
- NP_001394666.1:p.Gln122Ter
- NP_001394667.1:p.Gln122Ter
- NP_001394668.1:p.Gln122Ter
- NP_001394669.1:p.Gln121Ter
- NP_001394670.1:p.Gln121Ter
- NP_001394671.1:p.Gln121Ter
- NP_001394672.1:p.Gln121Ter
- NP_001394673.1:p.Gln121Ter
- NP_001394674.1:p.Gln121Ter
- NP_001394675.1:p.Gln121Ter
- NP_001394676.1:p.Gln121Ter
- NP_001394677.1:p.Gln121Ter
- NP_001394678.1:p.Gln121Ter
- NP_001394679.1:p.Gln122Ter
- NP_001394680.1:p.Gln122Ter
- NP_001394681.1:p.Gln122Ter
- NP_001394767.1:p.Gln121Ter
- NP_001394768.1:p.Gln121Ter
- NP_001394770.1:p.Gln121Ter
- NP_001394771.1:p.Gln121Ter
- NP_001394772.1:p.Gln121Ter
- NP_001394773.1:p.Gln121Ter
- NP_001394774.1:p.Gln121Ter
- NP_001394775.1:p.Gln121Ter
- NP_001394776.1:p.Gln121Ter
- NP_001394777.1:p.Gln121Ter
- NP_001394778.1:p.Gln121Ter
- NP_001394779.1:p.Gln122Ter
- NP_001394780.1:p.Gln122Ter
- NP_001394781.1:p.Gln122Ter
- NP_001394782.1:p.Gln98Ter
- NP_001394783.1:p.Gln169Ter
- NP_001394787.1:p.Gln169Ter
- NP_001394788.1:p.Gln169Ter
- NP_001394789.1:p.Gln168Ter
- NP_001394790.1:p.Gln168Ter
- NP_001394791.1:p.Gln143Ter
- NP_001394792.1:p.Gln169Ter
- NP_001394803.1:p.Gln142Ter
- NP_001394804.1:p.Gln142Ter
- NP_001394808.1:p.Gln99Ter
- NP_001394810.1:p.Gln99Ter
- NP_001394811.1:p.Gln99Ter
- NP_001394813.1:p.Gln99Ter
- NP_001394814.1:p.Gln99Ter
- NP_001394815.1:p.Gln99Ter
- NP_001394816.1:p.Gln99Ter
- NP_001394818.1:p.Gln99Ter
- NP_001394823.1:p.Gln98Ter
- NP_001394824.1:p.Gln98Ter
- NP_001394825.1:p.Gln98Ter
- NP_001394826.1:p.Gln98Ter
- NP_001394827.1:p.Gln98Ter
- NP_001394828.1:p.Gln98Ter
- NP_001394829.1:p.Gln99Ter
- NP_001394831.1:p.Gln99Ter
- NP_001394833.1:p.Gln99Ter
- NP_001394835.1:p.Gln99Ter
- NP_001394836.1:p.Gln99Ter
- NP_001394837.1:p.Gln99Ter
- NP_001394838.1:p.Gln99Ter
- NP_001394839.1:p.Gln99Ter
- NP_001394844.1:p.Gln98Ter
- NP_001394845.1:p.Gln98Ter
- NP_001394846.1:p.Gln98Ter
- NP_001394847.1:p.Gln98Ter
- NP_001394848.1:p.Gln169Ter
- NP_001394849.1:p.Gln122Ter
- NP_001394850.1:p.Gln122Ter
- NP_001394851.1:p.Gln122Ter
- NP_001394852.1:p.Gln122Ter
- NP_001394853.1:p.Gln122Ter
- NP_001394854.1:p.Gln122Ter
- NP_001394855.1:p.Gln122Ter
- NP_001394856.1:p.Gln122Ter
- NP_001394857.1:p.Gln122Ter
- NP_001394858.1:p.Gln122Ter
- NP_001394859.1:p.Gln121Ter
- NP_001394860.1:p.Gln121Ter
- NP_001394861.1:p.Gln121Ter
- NP_001394862.1:p.Gln122Ter
- NP_001394863.1:p.Gln121Ter
- NP_001394864.1:p.Gln122Ter
- NP_001394865.1:p.Gln121Ter
- NP_001394866.1:p.Gln169Ter
- NP_001394867.1:p.Gln169Ter
- NP_001394868.1:p.Gln169Ter
- NP_001394869.1:p.Gln168Ter
- NP_001394870.1:p.Gln168Ter
- NP_001394871.1:p.Gln122Ter
- NP_001394872.1:p.Gln121Ter
- NP_001394873.1:p.Gln122Ter
- NP_001394874.1:p.Gln122Ter
- NP_001394875.1:p.Gln99Ter
- NP_001394876.1:p.Gln99Ter
- NP_001394877.1:p.Gln99Ter
- NP_001394878.1:p.Gln99Ter
- NP_001394879.1:p.Gln99Ter
- NP_001394880.1:p.Gln99Ter
- NP_001394881.1:p.Gln99Ter
- NP_001394882.1:p.Gln99Ter
- NP_001394883.1:p.Gln98Ter
- NP_001394884.1:p.Gln98Ter
- NP_001394885.1:p.Gln98Ter
- NP_001394886.1:p.Gln99Ter
- NP_001394887.1:p.Gln98Ter
- NP_001394888.1:p.Gln42Ter
- NP_001394889.1:p.Gln42Ter
- NP_001394891.1:p.Gln41Ter
- NP_001394892.1:p.Gln42Ter
- NP_001394893.1:p.Gln121Ter
- NP_001394894.1:p.Gln42Ter
- NP_001394897.1:p.Gln169Ter
- NP_001394898.1:p.Gln169Ter
- NP_001394899.1:p.Gln169Ter
- NP_001394900.1:p.Gln169Ter
- NP_001394901.1:p.Gln168Ter
- NP_001394902.1:p.Gln169Ter
- NP_001394903.1:p.Gln169Ter
- NP_001394904.1:p.Gln169Ter
- NP_001394905.1:p.Gln169Ter
- NP_001394906.1:p.Gln169Ter
- NP_001394907.1:p.Gln169Ter
- NP_001394908.1:p.Gln169Ter
- NP_001394909.1:p.Gln169Ter
- NP_001394910.1:p.Gln169Ter
- NP_001394911.1:p.Gln169Ter
- NP_001394912.1:p.Gln169Ter
- NP_001394913.1:p.Gln168Ter
- NP_001394914.1:p.Gln168Ter
- NP_001394915.1:p.Gln168Ter
- NP_001394919.1:p.Gln169Ter
- NP_001394920.1:p.Gln168Ter
- NP_001394921.1:p.Gln168Ter
- NP_001394922.1:p.Gln169Ter
- NP_001395321.1:p.Gln168Ter
- NP_001395325.1:p.Gln168Ter
- NP_001395326.1:p.Gln168Ter
- NP_001395327.1:p.Gln168Ter
- NP_001395328.1:p.Gln168Ter
- NP_001395329.1:p.Gln168Ter
- NP_001395330.1:p.Gln168Ter
- NP_001395331.1:p.Gln168Ter
- NP_001395332.1:p.Gln169Ter
- NP_001395333.1:p.Gln169Ter
- NP_001395335.1:p.Gln169Ter
- NP_001395336.1:p.Gln168Ter
- NP_001395337.1:p.Gln166Ter
- NP_001395338.1:p.Gln143Ter
- NP_001395339.1:p.Gln122Ter
- NP_001395340.1:p.Gln143Ter
- NP_001395341.1:p.Gln143Ter
- NP_001395342.1:p.Gln142Ter
- NP_001395343.1:p.Gln143Ter
- NP_001395344.1:p.Gln143Ter
- NP_001395345.1:p.Gln142Ter
- NP_001395347.1:p.Gln169Ter
- NP_001395348.1:p.Gln169Ter
- NP_001395349.1:p.Gln169Ter
- NP_001395350.1:p.Gln168Ter
- NP_001395351.1:p.Gln169Ter
- NP_001395352.1:p.Gln169Ter
- NP_001395353.1:p.Gln168Ter
- NP_001395354.1:p.Gln169Ter
- NP_001395355.1:p.Gln169Ter
- NP_001395356.1:p.Gln169Ter
- NP_001395357.1:p.Gln169Ter
- NP_001395358.1:p.Gln169Ter
- NP_001395359.1:p.Gln169Ter
- NP_001395360.1:p.Gln168Ter
- NP_001395361.1:p.Gln168Ter
- NP_001395362.1:p.Gln168Ter
- NP_001395363.1:p.Gln168Ter
- NP_001395364.1:p.Gln168Ter
- NP_001395365.1:p.Gln169Ter
- NP_001395366.1:p.Gln169Ter
- NP_001395367.1:p.Gln169Ter
- NP_001395368.1:p.Gln169Ter
- NP_001395369.1:p.Gln169Ter
- NP_001395370.1:p.Gln169Ter
- NP_001395371.1:p.Gln169Ter
- NP_001395372.1:p.Gln169Ter
- NP_001395373.1:p.Gln169Ter
- NP_001395374.1:p.Gln168Ter
- NP_001395375.1:p.Gln168Ter
- NP_001395376.1:p.Gln168Ter
- NP_001395377.1:p.Gln168Ter
- NP_001395379.1:p.Gln168Ter
- NP_001395380.1:p.Gln124Ter
- NP_001395381.1:p.Gln122Ter
- NP_001395382.1:p.Gln122Ter
- NP_001395383.1:p.Gln122Ter
- NP_001395384.1:p.Gln122Ter
- NP_001395385.1:p.Gln122Ter
- NP_001395386.1:p.Gln122Ter
- NP_001395387.1:p.Gln122Ter
- NP_001395388.1:p.Gln122Ter
- NP_001395389.1:p.Gln122Ter
- NP_001395390.1:p.Gln122Ter
- NP_001395391.1:p.Gln121Ter
- NP_001395392.1:p.Gln121Ter
- NP_001395393.1:p.Gln121Ter
- NP_001395394.1:p.Gln121Ter
- NP_001395395.1:p.Gln122Ter
- NP_001395396.1:p.Gln122Ter
- NP_001395397.1:p.Gln121Ter
- NP_001395398.1:p.Gln122Ter
- NP_001395399.1:p.Gln121Ter
- NP_001395401.1:p.Gln169Ter
- NP_001395402.1:p.Gln168Ter
- NP_001395403.1:p.Gln143Ter
- NP_001395404.1:p.Gln142Ter
- NP_001395405.1:p.Gln143Ter
- NP_001395407.1:p.Gln99Ter
- NP_001395408.1:p.Gln99Ter
- NP_001395409.1:p.Gln99Ter
- NP_001395410.1:p.Gln99Ter
- NP_001395411.1:p.Gln99Ter
- NP_001395412.1:p.Gln99Ter
- NP_001395413.1:p.Gln99Ter
- NP_001395414.1:p.Gln99Ter
- NP_001395418.1:p.Gln99Ter
- NP_001395419.1:p.Gln98Ter
- NP_001395420.1:p.Gln98Ter
- NP_001395421.1:p.Gln99Ter
- NP_001395422.1:p.Gln98Ter
- NP_001395423.1:p.Gln169Ter
- NP_001395424.1:p.Gln168Ter
- NP_001395425.1:p.Gln122Ter
- NP_001395426.1:p.Gln122Ter
- NP_001395427.1:p.Gln122Ter
- NP_001395428.1:p.Gln122Ter
- NP_001395429.1:p.Gln122Ter
- NP_001395430.1:p.Gln122Ter
- NP_001395431.1:p.Gln99Ter
- NP_001395432.1:p.Gln121Ter
- NP_001395433.1:p.Gln121Ter
- NP_001395434.1:p.Gln121Ter
- NP_001395435.1:p.Gln99Ter
- NP_001395436.1:p.Gln99Ter
- NP_001395437.1:p.Gln98Ter
- NP_001395438.1:p.Gln98Ter
- NP_001395439.1:p.Gln42Ter
- NP_001395440.1:p.Gln121Ter
- NP_001395441.1:p.Gln42Ter
- NP_001395442.1:p.Gln99Ter
- NP_001395443.1:p.Gln99Ter
- NP_009225.1:p.Gln169Ter
- NP_009225.1:p.Gln169Ter
- NP_009228.2:p.Gln122Ter
- NP_009229.2:p.Gln169Ter
- NP_009229.2:p.Gln169Ter
- NP_009230.2:p.Gln169Ter
- NP_009231.2:p.Gln169Ter
- NP_009235.2:p.Gln169Ter
- LRG_292t1:c.505C>T
- LRG_292:g.118167C>T
- LRG_292p1:p.Gln169Ter
- NC_000017.10:g.41251834G>A
- NM_007294.3:c.505C>T
- NM_007298.3:c.505C>T
- NR_027676.2:n.682C>T
- U14680.1:n.624C>T
- p.Gln169*
This HGVS expression did not pass validation- Protein change:
- Q121*
- Links:
- dbSNP: rs80357133
- NCBI 1000 Genomes Browser:
- rs80357133
- Molecular consequence:
- NR_027676.2:n.682C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407571.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407964.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408410.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408451.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408452.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408453.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408454.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408455.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408456.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408457.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408458.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408459.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408460.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408461.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408462.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408463.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408464.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408465.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408466.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408467.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408468.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408469.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408470.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408478.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408479.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408480.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408481.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408482.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408483.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408484.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408485.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408489.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408490.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408491.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408492.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408493.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408496.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408497.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408498.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408499.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408500.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408501.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408502.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408503.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408504.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408505.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408506.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408507.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408508.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408509.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408510.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408511.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408512.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408513.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408514.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591274 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591274.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.Gln169X has been identified in 1 out of 120 proband chromosomes (frequency 0.008) in an individual with a familial breast and ovarian cancer phenotype, however no controls were included in this study (Gayther 1995). It is listed in dbSNP database coming from a “clinical source” (ID#: rs80357133) where no frequency information was available. The p.Gln169X variant leads to a premature stop codon at position 169, which is predicted to cause a truncated or absent protein product and loss of function. Loss of BRCA1 function is an established disease mechanism in familial breast and ovarian cancer syndromes. In addition, this variant is listed 5 times in BIC database as a clinically important mutation. In summary, based on the information above, this variant is classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 24, 2024