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NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353792.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)]

NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)

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.4183C>T (p.Gln1395Ter)
Other names:
p.Q1395*:CAG>TAG; p.Gln1395Ter
HGVS:
  • NC_000017.11:g.43090946G>A
  • NG_005905.2:g.127038C>T
  • NM_001407571.1:c.3970C>T
  • NM_001407581.1:c.4183C>T
  • NM_001407582.1:c.4183C>T
  • NM_001407583.1:c.4183C>T
  • NM_001407585.1:c.4183C>T
  • NM_001407587.1:c.4180C>T
  • NM_001407590.1:c.4180C>T
  • NM_001407591.1:c.4180C>T
  • NM_001407593.1:c.4183C>T
  • NM_001407594.1:c.4183C>T
  • NM_001407596.1:c.4183C>T
  • NM_001407597.1:c.4183C>T
  • NM_001407598.1:c.4183C>T
  • NM_001407602.1:c.4183C>T
  • NM_001407603.1:c.4183C>T
  • NM_001407605.1:c.4183C>T
  • NM_001407610.1:c.4180C>T
  • NM_001407611.1:c.4180C>T
  • NM_001407612.1:c.4180C>T
  • NM_001407613.1:c.4180C>T
  • NM_001407614.1:c.4180C>T
  • NM_001407615.1:c.4180C>T
  • NM_001407616.1:c.4183C>T
  • NM_001407617.1:c.4183C>T
  • NM_001407618.1:c.4183C>T
  • NM_001407619.1:c.4183C>T
  • NM_001407620.1:c.4183C>T
  • NM_001407621.1:c.4183C>T
  • NM_001407622.1:c.4183C>T
  • NM_001407623.1:c.4183C>T
  • NM_001407624.1:c.4183C>T
  • NM_001407625.1:c.4183C>T
  • NM_001407626.1:c.4183C>T
  • NM_001407627.1:c.4180C>T
  • NM_001407628.1:c.4180C>T
  • NM_001407629.1:c.4180C>T
  • NM_001407630.1:c.4180C>T
  • NM_001407631.1:c.4180C>T
  • NM_001407632.1:c.4180C>T
  • NM_001407633.1:c.4180C>T
  • NM_001407634.1:c.4180C>T
  • NM_001407635.1:c.4180C>T
  • NM_001407636.1:c.4180C>T
  • NM_001407637.1:c.4180C>T
  • NM_001407638.1:c.4180C>T
  • NM_001407639.1:c.4183C>T
  • NM_001407640.1:c.4183C>T
  • NM_001407641.1:c.4183C>T
  • NM_001407642.1:c.4183C>T
  • NM_001407644.1:c.4180C>T
  • NM_001407645.1:c.4180C>T
  • NM_001407646.1:c.4174C>T
  • NM_001407647.1:c.4174C>T
  • NM_001407648.1:c.4060C>T
  • NM_001407649.1:c.4057C>T
  • NM_001407652.1:c.4183C>T
  • NM_001407653.1:c.4105C>T
  • NM_001407654.1:c.4105C>T
  • NM_001407655.1:c.4105C>T
  • NM_001407656.1:c.4105C>T
  • NM_001407657.1:c.4105C>T
  • NM_001407658.1:c.4105C>T
  • NM_001407659.1:c.4102C>T
  • NM_001407660.1:c.4102C>T
  • NM_001407661.1:c.4102C>T
  • NM_001407662.1:c.4102C>T
  • NM_001407663.1:c.4105C>T
  • NM_001407664.1:c.4060C>T
  • NM_001407665.1:c.4060C>T
  • NM_001407666.1:c.4060C>T
  • NM_001407667.1:c.4060C>T
  • NM_001407668.1:c.4060C>T
  • NM_001407669.1:c.4060C>T
  • NM_001407670.1:c.4057C>T
  • NM_001407671.1:c.4057C>T
  • NM_001407672.1:c.4057C>T
  • NM_001407673.1:c.4057C>T
  • NM_001407674.1:c.4060C>T
  • NM_001407675.1:c.4060C>T
  • NM_001407676.1:c.4060C>T
  • NM_001407677.1:c.4060C>T
  • NM_001407678.1:c.4060C>T
  • NM_001407679.1:c.4060C>T
  • NM_001407680.1:c.4060C>T
  • NM_001407681.1:c.4060C>T
  • NM_001407682.1:c.4060C>T
  • NM_001407683.1:c.4060C>T
  • NM_001407684.1:c.4183C>T
  • NM_001407685.1:c.4057C>T
  • NM_001407686.1:c.4057C>T
  • NM_001407687.1:c.4057C>T
  • NM_001407688.1:c.4057C>T
  • NM_001407689.1:c.4057C>T
  • NM_001407690.1:c.4057C>T
  • NM_001407691.1:c.4057C>T
  • NM_001407692.1:c.4042C>T
  • NM_001407694.1:c.4042C>T
  • NM_001407695.1:c.4042C>T
  • NM_001407696.1:c.4042C>T
  • NM_001407697.1:c.4042C>T
  • NM_001407698.1:c.4042C>T
  • NM_001407724.1:c.4042C>T
  • NM_001407725.1:c.4042C>T
  • NM_001407726.1:c.4042C>T
  • NM_001407727.1:c.4042C>T
  • NM_001407728.1:c.4042C>T
  • NM_001407729.1:c.4042C>T
  • NM_001407730.1:c.4042C>T
  • NM_001407731.1:c.4042C>T
  • NM_001407732.1:c.4042C>T
  • NM_001407733.1:c.4042C>T
  • NM_001407734.1:c.4042C>T
  • NM_001407735.1:c.4042C>T
  • NM_001407736.1:c.4042C>T
  • NM_001407737.1:c.4042C>T
  • NM_001407738.1:c.4042C>T
  • NM_001407739.1:c.4042C>T
  • NM_001407740.1:c.4039C>T
  • NM_001407741.1:c.4039C>T
  • NM_001407742.1:c.4039C>T
  • NM_001407743.1:c.4039C>T
  • NM_001407744.1:c.4039C>T
  • NM_001407745.1:c.4039C>T
  • NM_001407746.1:c.4039C>T
  • NM_001407747.1:c.4039C>T
  • NM_001407748.1:c.4039C>T
  • NM_001407749.1:c.4039C>T
  • NM_001407750.1:c.4042C>T
  • NM_001407751.1:c.4042C>T
  • NM_001407752.1:c.4042C>T
  • NM_001407838.1:c.4039C>T
  • NM_001407839.1:c.4039C>T
  • NM_001407841.1:c.4039C>T
  • NM_001407842.1:c.4039C>T
  • NM_001407843.1:c.4039C>T
  • NM_001407844.1:c.4039C>T
  • NM_001407845.1:c.4039C>T
  • NM_001407846.1:c.4039C>T
  • NM_001407847.1:c.4039C>T
  • NM_001407848.1:c.4039C>T
  • NM_001407849.1:c.4039C>T
  • NM_001407850.1:c.4042C>T
  • NM_001407851.1:c.4042C>T
  • NM_001407852.1:c.4042C>T
  • NM_001407853.1:c.3970C>T
  • NM_001407854.1:c.4183C>T
  • NM_001407858.1:c.4183C>T
  • NM_001407859.1:c.4183C>T
  • NM_001407860.1:c.4180C>T
  • NM_001407861.1:c.4180C>T
  • NM_001407862.1:c.3982C>T
  • NM_001407863.1:c.4060C>T
  • NM_001407874.1:c.3979C>T
  • NM_001407875.1:c.3979C>T
  • NM_001407879.1:c.3973C>T
  • NM_001407881.1:c.3973C>T
  • NM_001407882.1:c.3973C>T
  • NM_001407884.1:c.3973C>T
  • NM_001407885.1:c.3973C>T
  • NM_001407886.1:c.3973C>T
  • NM_001407887.1:c.3973C>T
  • NM_001407889.1:c.3973C>T
  • NM_001407894.1:c.3970C>T
  • NM_001407895.1:c.3970C>T
  • NM_001407896.1:c.3970C>T
  • NM_001407897.1:c.3970C>T
  • NM_001407898.1:c.3970C>T
  • NM_001407899.1:c.3970C>T
  • NM_001407900.1:c.3973C>T
  • NM_001407902.1:c.3973C>T
  • NM_001407904.1:c.3973C>T
  • NM_001407906.1:c.3973C>T
  • NM_001407907.1:c.3973C>T
  • NM_001407908.1:c.3973C>T
  • NM_001407909.1:c.3973C>T
  • NM_001407910.1:c.3973C>T
  • NM_001407915.1:c.3970C>T
  • NM_001407916.1:c.3970C>T
  • NM_001407917.1:c.3970C>T
  • NM_001407918.1:c.3970C>T
  • NM_001407919.1:c.4060C>T
  • NM_001407920.1:c.3919C>T
  • NM_001407921.1:c.3919C>T
  • NM_001407922.1:c.3919C>T
  • NM_001407923.1:c.3919C>T
  • NM_001407924.1:c.3919C>T
  • NM_001407925.1:c.3919C>T
  • NM_001407926.1:c.3919C>T
  • NM_001407927.1:c.3919C>T
  • NM_001407928.1:c.3919C>T
  • NM_001407929.1:c.3919C>T
  • NM_001407930.1:c.3916C>T
  • NM_001407931.1:c.3916C>T
  • NM_001407932.1:c.3916C>T
  • NM_001407933.1:c.3919C>T
  • NM_001407934.1:c.3916C>T
  • NM_001407935.1:c.3919C>T
  • NM_001407936.1:c.3916C>T
  • NM_001407937.1:c.4060C>T
  • NM_001407938.1:c.4060C>T
  • NM_001407939.1:c.4060C>T
  • NM_001407940.1:c.4057C>T
  • NM_001407941.1:c.4057C>T
  • NM_001407942.1:c.4042C>T
  • NM_001407943.1:c.4039C>T
  • NM_001407944.1:c.4042C>T
  • NM_001407945.1:c.4042C>T
  • NM_001407946.1:c.3850C>T
  • NM_001407947.1:c.3850C>T
  • NM_001407948.1:c.3850C>T
  • NM_001407949.1:c.3850C>T
  • NM_001407950.1:c.3850C>T
  • NM_001407951.1:c.3850C>T
  • NM_001407952.1:c.3850C>T
  • NM_001407953.1:c.3850C>T
  • NM_001407954.1:c.3847C>T
  • NM_001407955.1:c.3847C>T
  • NM_001407956.1:c.3847C>T
  • NM_001407957.1:c.3850C>T
  • NM_001407958.1:c.3847C>T
  • NM_001407959.1:c.3802C>T
  • NM_001407960.1:c.3802C>T
  • NM_001407962.1:c.3799C>T
  • NM_001407963.1:c.3802C>T
  • NM_001407964.1:c.4039C>T
  • NM_001407965.1:c.3679C>T
  • NM_001407966.1:c.3295C>T
  • NM_001407967.1:c.3295C>T
  • NM_001407968.1:c.1579C>T
  • NM_001407969.1:c.1579C>T
  • NM_001407970.1:c.874C>T
  • NM_001407971.1:c.874C>T
  • NM_001407972.1:c.871C>T
  • NM_001407973.1:c.874C>T
  • NM_001407974.1:c.874C>T
  • NM_001407975.1:c.874C>T
  • NM_001407976.1:c.874C>T
  • NM_001407977.1:c.874C>T
  • NM_001407978.1:c.874C>T
  • NM_001407979.1:c.874C>T
  • NM_001407980.1:c.874C>T
  • NM_001407981.1:c.874C>T
  • NM_001407982.1:c.874C>T
  • NM_001407983.1:c.874C>T
  • NM_001407984.1:c.871C>T
  • NM_001407985.1:c.871C>T
  • NM_001407986.1:c.871C>T
  • NM_001407990.1:c.874C>T
  • NM_001407991.1:c.871C>T
  • NM_001407992.1:c.871C>T
  • NM_001407993.1:c.874C>T
  • NM_001408392.1:c.871C>T
  • NM_001408396.1:c.871C>T
  • NM_001408397.1:c.871C>T
  • NM_001408398.1:c.871C>T
  • NM_001408399.1:c.871C>T
  • NM_001408400.1:c.871C>T
  • NM_001408401.1:c.871C>T
  • NM_001408402.1:c.871C>T
  • NM_001408403.1:c.874C>T
  • NM_001408404.1:c.874C>T
  • NM_001408406.1:c.868C>T
  • NM_001408407.1:c.871C>T
  • NM_001408408.1:c.865C>T
  • NM_001408409.1:c.796C>T
  • NM_001408410.1:c.733C>T
  • NM_001408411.1:c.796C>T
  • NM_001408412.1:c.796C>T
  • NM_001408413.1:c.793C>T
  • NM_001408414.1:c.796C>T
  • NM_001408415.1:c.796C>T
  • NM_001408416.1:c.793C>T
  • NM_001408418.1:c.757C>T
  • NM_001408419.1:c.757C>T
  • NM_001408420.1:c.757C>T
  • NM_001408421.1:c.754C>T
  • NM_001408422.1:c.757C>T
  • NM_001408423.1:c.757C>T
  • NM_001408424.1:c.754C>T
  • NM_001408425.1:c.751C>T
  • NM_001408426.1:c.751C>T
  • NM_001408427.1:c.751C>T
  • NM_001408428.1:c.751C>T
  • NM_001408429.1:c.751C>T
  • NM_001408430.1:c.751C>T
  • NM_001408431.1:c.754C>T
  • NM_001408432.1:c.748C>T
  • NM_001408433.1:c.748C>T
  • NM_001408434.1:c.748C>T
  • NM_001408435.1:c.748C>T
  • NM_001408436.1:c.751C>T
  • NM_001408437.1:c.751C>T
  • NM_001408438.1:c.751C>T
  • NM_001408439.1:c.751C>T
  • NM_001408440.1:c.751C>T
  • NM_001408441.1:c.751C>T
  • NM_001408442.1:c.751C>T
  • NM_001408443.1:c.751C>T
  • NM_001408444.1:c.751C>T
  • NM_001408445.1:c.748C>T
  • NM_001408446.1:c.748C>T
  • NM_001408447.1:c.748C>T
  • NM_001408448.1:c.748C>T
  • NM_001408450.1:c.748C>T
  • NM_001408451.1:c.739C>T
  • NM_001408452.1:c.733C>T
  • NM_001408453.1:c.733C>T
  • NM_001408454.1:c.733C>T
  • NM_001408455.1:c.733C>T
  • NM_001408456.1:c.733C>T
  • NM_001408457.1:c.733C>T
  • NM_001408458.1:c.733C>T
  • NM_001408459.1:c.733C>T
  • NM_001408460.1:c.733C>T
  • NM_001408461.1:c.733C>T
  • NM_001408462.1:c.730C>T
  • NM_001408463.1:c.730C>T
  • NM_001408464.1:c.730C>T
  • NM_001408465.1:c.730C>T
  • NM_001408466.1:c.733C>T
  • NM_001408467.1:c.733C>T
  • NM_001408468.1:c.730C>T
  • NM_001408469.1:c.733C>T
  • NM_001408470.1:c.730C>T
  • NM_001408472.1:c.874C>T
  • NM_001408473.1:c.871C>T
  • NM_001408474.1:c.673C>T
  • NM_001408475.1:c.670C>T
  • NM_001408476.1:c.673C>T
  • NM_001408478.1:c.664C>T
  • NM_001408479.1:c.664C>T
  • NM_001408480.1:c.664C>T
  • NM_001408481.1:c.664C>T
  • NM_001408482.1:c.664C>T
  • NM_001408483.1:c.664C>T
  • NM_001408484.1:c.664C>T
  • NM_001408485.1:c.664C>T
  • NM_001408489.1:c.664C>T
  • NM_001408490.1:c.661C>T
  • NM_001408491.1:c.661C>T
  • NM_001408492.1:c.664C>T
  • NM_001408493.1:c.661C>T
  • NM_001408494.1:c.634C>T
  • NM_001408495.1:c.631C>T
  • NM_001408496.1:c.610C>T
  • NM_001408497.1:c.610C>T
  • NM_001408498.1:c.610C>T
  • NM_001408499.1:c.610C>T
  • NM_001408500.1:c.610C>T
  • NM_001408501.1:c.610C>T
  • NM_001408502.1:c.541C>T
  • NM_001408503.1:c.607C>T
  • NM_001408504.1:c.607C>T
  • NM_001408505.1:c.607C>T
  • NM_001408506.1:c.547C>T
  • NM_001408507.1:c.547C>T
  • NM_001408508.1:c.538C>T
  • NM_001408509.1:c.538C>T
  • NM_001408510.1:c.493C>T
  • NM_001408511.1:c.490C>T
  • NM_001408512.1:c.370C>T
  • NM_001408513.1:c.664C>T
  • NM_001408514.1:c.664C>T
  • NM_007294.4:c.4183C>TMANE SELECT
  • NM_007297.4:c.4042C>T
  • NM_007298.4:c.874C>T
  • NM_007299.4:c.874C>T
  • NM_007300.4:c.4183C>T
  • NM_007304.2:c.874C>T
  • NP_001394500.1:p.Gln1324Ter
  • NP_001394510.1:p.Gln1395Ter
  • NP_001394511.1:p.Gln1395Ter
  • NP_001394512.1:p.Gln1395Ter
  • NP_001394514.1:p.Gln1395Ter
  • NP_001394516.1:p.Gln1394Ter
  • NP_001394519.1:p.Gln1394Ter
  • NP_001394520.1:p.Gln1394Ter
  • NP_001394522.1:p.Gln1395Ter
  • NP_001394523.1:p.Gln1395Ter
  • NP_001394525.1:p.Gln1395Ter
  • NP_001394526.1:p.Gln1395Ter
  • NP_001394527.1:p.Gln1395Ter
  • NP_001394531.1:p.Gln1395Ter
  • NP_001394532.1:p.Gln1395Ter
  • NP_001394534.1:p.Gln1395Ter
  • NP_001394539.1:p.Gln1394Ter
  • NP_001394540.1:p.Gln1394Ter
  • NP_001394541.1:p.Gln1394Ter
  • NP_001394542.1:p.Gln1394Ter
  • NP_001394543.1:p.Gln1394Ter
  • NP_001394544.1:p.Gln1394Ter
  • NP_001394545.1:p.Gln1395Ter
  • NP_001394546.1:p.Gln1395Ter
  • NP_001394547.1:p.Gln1395Ter
  • NP_001394548.1:p.Gln1395Ter
  • NP_001394549.1:p.Gln1395Ter
  • NP_001394550.1:p.Gln1395Ter
  • NP_001394551.1:p.Gln1395Ter
  • NP_001394552.1:p.Gln1395Ter
  • NP_001394553.1:p.Gln1395Ter
  • NP_001394554.1:p.Gln1395Ter
  • NP_001394555.1:p.Gln1395Ter
  • NP_001394556.1:p.Gln1394Ter
  • NP_001394557.1:p.Gln1394Ter
  • NP_001394558.1:p.Gln1394Ter
  • NP_001394559.1:p.Gln1394Ter
  • NP_001394560.1:p.Gln1394Ter
  • NP_001394561.1:p.Gln1394Ter
  • NP_001394562.1:p.Gln1394Ter
  • NP_001394563.1:p.Gln1394Ter
  • NP_001394564.1:p.Gln1394Ter
  • NP_001394565.1:p.Gln1394Ter
  • NP_001394566.1:p.Gln1394Ter
  • NP_001394567.1:p.Gln1394Ter
  • NP_001394568.1:p.Gln1395Ter
  • NP_001394569.1:p.Gln1395Ter
  • NP_001394570.1:p.Gln1395Ter
  • NP_001394571.1:p.Gln1395Ter
  • NP_001394573.1:p.Gln1394Ter
  • NP_001394574.1:p.Gln1394Ter
  • NP_001394575.1:p.Gln1392Ter
  • NP_001394576.1:p.Gln1392Ter
  • NP_001394577.1:p.Gln1354Ter
  • NP_001394578.1:p.Gln1353Ter
  • NP_001394581.1:p.Gln1395Ter
  • NP_001394582.1:p.Gln1369Ter
  • NP_001394583.1:p.Gln1369Ter
  • NP_001394584.1:p.Gln1369Ter
  • NP_001394585.1:p.Gln1369Ter
  • NP_001394586.1:p.Gln1369Ter
  • NP_001394587.1:p.Gln1369Ter
  • NP_001394588.1:p.Gln1368Ter
  • NP_001394589.1:p.Gln1368Ter
  • NP_001394590.1:p.Gln1368Ter
  • NP_001394591.1:p.Gln1368Ter
  • NP_001394592.1:p.Gln1369Ter
  • NP_001394593.1:p.Gln1354Ter
  • NP_001394594.1:p.Gln1354Ter
  • NP_001394595.1:p.Gln1354Ter
  • NP_001394596.1:p.Gln1354Ter
  • NP_001394597.1:p.Gln1354Ter
  • NP_001394598.1:p.Gln1354Ter
  • NP_001394599.1:p.Gln1353Ter
  • NP_001394600.1:p.Gln1353Ter
  • NP_001394601.1:p.Gln1353Ter
  • NP_001394602.1:p.Gln1353Ter
  • NP_001394603.1:p.Gln1354Ter
  • NP_001394604.1:p.Gln1354Ter
  • NP_001394605.1:p.Gln1354Ter
  • NP_001394606.1:p.Gln1354Ter
  • NP_001394607.1:p.Gln1354Ter
  • NP_001394608.1:p.Gln1354Ter
  • NP_001394609.1:p.Gln1354Ter
  • NP_001394610.1:p.Gln1354Ter
  • NP_001394611.1:p.Gln1354Ter
  • NP_001394612.1:p.Gln1354Ter
  • NP_001394613.1:p.Gln1395Ter
  • NP_001394614.1:p.Gln1353Ter
  • NP_001394615.1:p.Gln1353Ter
  • NP_001394616.1:p.Gln1353Ter
  • NP_001394617.1:p.Gln1353Ter
  • NP_001394618.1:p.Gln1353Ter
  • NP_001394619.1:p.Gln1353Ter
  • NP_001394620.1:p.Gln1353Ter
  • NP_001394621.1:p.Gln1348Ter
  • NP_001394623.1:p.Gln1348Ter
  • NP_001394624.1:p.Gln1348Ter
  • NP_001394625.1:p.Gln1348Ter
  • NP_001394626.1:p.Gln1348Ter
  • NP_001394627.1:p.Gln1348Ter
  • NP_001394653.1:p.Gln1348Ter
  • NP_001394654.1:p.Gln1348Ter
  • NP_001394655.1:p.Gln1348Ter
  • NP_001394656.1:p.Gln1348Ter
  • NP_001394657.1:p.Gln1348Ter
  • NP_001394658.1:p.Gln1348Ter
  • NP_001394659.1:p.Gln1348Ter
  • NP_001394660.1:p.Gln1348Ter
  • NP_001394661.1:p.Gln1348Ter
  • NP_001394662.1:p.Gln1348Ter
  • NP_001394663.1:p.Gln1348Ter
  • NP_001394664.1:p.Gln1348Ter
  • NP_001394665.1:p.Gln1348Ter
  • NP_001394666.1:p.Gln1348Ter
  • NP_001394667.1:p.Gln1348Ter
  • NP_001394668.1:p.Gln1348Ter
  • NP_001394669.1:p.Gln1347Ter
  • NP_001394670.1:p.Gln1347Ter
  • NP_001394671.1:p.Gln1347Ter
  • NP_001394672.1:p.Gln1347Ter
  • NP_001394673.1:p.Gln1347Ter
  • NP_001394674.1:p.Gln1347Ter
  • NP_001394675.1:p.Gln1347Ter
  • NP_001394676.1:p.Gln1347Ter
  • NP_001394677.1:p.Gln1347Ter
  • NP_001394678.1:p.Gln1347Ter
  • NP_001394679.1:p.Gln1348Ter
  • NP_001394680.1:p.Gln1348Ter
  • NP_001394681.1:p.Gln1348Ter
  • NP_001394767.1:p.Gln1347Ter
  • NP_001394768.1:p.Gln1347Ter
  • NP_001394770.1:p.Gln1347Ter
  • NP_001394771.1:p.Gln1347Ter
  • NP_001394772.1:p.Gln1347Ter
  • NP_001394773.1:p.Gln1347Ter
  • NP_001394774.1:p.Gln1347Ter
  • NP_001394775.1:p.Gln1347Ter
  • NP_001394776.1:p.Gln1347Ter
  • NP_001394777.1:p.Gln1347Ter
  • NP_001394778.1:p.Gln1347Ter
  • NP_001394779.1:p.Gln1348Ter
  • NP_001394780.1:p.Gln1348Ter
  • NP_001394781.1:p.Gln1348Ter
  • NP_001394782.1:p.Gln1324Ter
  • NP_001394783.1:p.Gln1395Ter
  • NP_001394787.1:p.Gln1395Ter
  • NP_001394788.1:p.Gln1395Ter
  • NP_001394789.1:p.Gln1394Ter
  • NP_001394790.1:p.Gln1394Ter
  • NP_001394791.1:p.Gln1328Ter
  • NP_001394792.1:p.Gln1354Ter
  • NP_001394803.1:p.Gln1327Ter
  • NP_001394804.1:p.Gln1327Ter
  • NP_001394808.1:p.Gln1325Ter
  • NP_001394810.1:p.Gln1325Ter
  • NP_001394811.1:p.Gln1325Ter
  • NP_001394813.1:p.Gln1325Ter
  • NP_001394814.1:p.Gln1325Ter
  • NP_001394815.1:p.Gln1325Ter
  • NP_001394816.1:p.Gln1325Ter
  • NP_001394818.1:p.Gln1325Ter
  • NP_001394823.1:p.Gln1324Ter
  • NP_001394824.1:p.Gln1324Ter
  • NP_001394825.1:p.Gln1324Ter
  • NP_001394826.1:p.Gln1324Ter
  • NP_001394827.1:p.Gln1324Ter
  • NP_001394828.1:p.Gln1324Ter
  • NP_001394829.1:p.Gln1325Ter
  • NP_001394831.1:p.Gln1325Ter
  • NP_001394833.1:p.Gln1325Ter
  • NP_001394835.1:p.Gln1325Ter
  • NP_001394836.1:p.Gln1325Ter
  • NP_001394837.1:p.Gln1325Ter
  • NP_001394838.1:p.Gln1325Ter
  • NP_001394839.1:p.Gln1325Ter
  • NP_001394844.1:p.Gln1324Ter
  • NP_001394845.1:p.Gln1324Ter
  • NP_001394846.1:p.Gln1324Ter
  • NP_001394847.1:p.Gln1324Ter
  • NP_001394848.1:p.Gln1354Ter
  • NP_001394849.1:p.Gln1307Ter
  • NP_001394850.1:p.Gln1307Ter
  • NP_001394851.1:p.Gln1307Ter
  • NP_001394852.1:p.Gln1307Ter
  • NP_001394853.1:p.Gln1307Ter
  • NP_001394854.1:p.Gln1307Ter
  • NP_001394855.1:p.Gln1307Ter
  • NP_001394856.1:p.Gln1307Ter
  • NP_001394857.1:p.Gln1307Ter
  • NP_001394858.1:p.Gln1307Ter
  • NP_001394859.1:p.Gln1306Ter
  • NP_001394860.1:p.Gln1306Ter
  • NP_001394861.1:p.Gln1306Ter
  • NP_001394862.1:p.Gln1307Ter
  • NP_001394863.1:p.Gln1306Ter
  • NP_001394864.1:p.Gln1307Ter
  • NP_001394865.1:p.Gln1306Ter
  • NP_001394866.1:p.Gln1354Ter
  • NP_001394867.1:p.Gln1354Ter
  • NP_001394868.1:p.Gln1354Ter
  • NP_001394869.1:p.Gln1353Ter
  • NP_001394870.1:p.Gln1353Ter
  • NP_001394871.1:p.Gln1348Ter
  • NP_001394872.1:p.Gln1347Ter
  • NP_001394873.1:p.Gln1348Ter
  • NP_001394874.1:p.Gln1348Ter
  • NP_001394875.1:p.Gln1284Ter
  • NP_001394876.1:p.Gln1284Ter
  • NP_001394877.1:p.Gln1284Ter
  • NP_001394878.1:p.Gln1284Ter
  • NP_001394879.1:p.Gln1284Ter
  • NP_001394880.1:p.Gln1284Ter
  • NP_001394881.1:p.Gln1284Ter
  • NP_001394882.1:p.Gln1284Ter
  • NP_001394883.1:p.Gln1283Ter
  • NP_001394884.1:p.Gln1283Ter
  • NP_001394885.1:p.Gln1283Ter
  • NP_001394886.1:p.Gln1284Ter
  • NP_001394887.1:p.Gln1283Ter
  • NP_001394888.1:p.Gln1268Ter
  • NP_001394889.1:p.Gln1268Ter
  • NP_001394891.1:p.Gln1267Ter
  • NP_001394892.1:p.Gln1268Ter
  • NP_001394893.1:p.Gln1347Ter
  • NP_001394894.1:p.Gln1227Ter
  • NP_001394895.1:p.Gln1099Ter
  • NP_001394896.1:p.Gln1099Ter
  • NP_001394897.1:p.Gln527Ter
  • NP_001394898.1:p.Gln527Ter
  • NP_001394899.1:p.Gln292Ter
  • NP_001394900.1:p.Gln292Ter
  • NP_001394901.1:p.Gln291Ter
  • NP_001394902.1:p.Gln292Ter
  • NP_001394903.1:p.Gln292Ter
  • NP_001394904.1:p.Gln292Ter
  • NP_001394905.1:p.Gln292Ter
  • NP_001394906.1:p.Gln292Ter
  • NP_001394907.1:p.Gln292Ter
  • NP_001394908.1:p.Gln292Ter
  • NP_001394909.1:p.Gln292Ter
  • NP_001394910.1:p.Gln292Ter
  • NP_001394911.1:p.Gln292Ter
  • NP_001394912.1:p.Gln292Ter
  • NP_001394913.1:p.Gln291Ter
  • NP_001394914.1:p.Gln291Ter
  • NP_001394915.1:p.Gln291Ter
  • NP_001394919.1:p.Gln292Ter
  • NP_001394920.1:p.Gln291Ter
  • NP_001394921.1:p.Gln291Ter
  • NP_001394922.1:p.Gln292Ter
  • NP_001395321.1:p.Gln291Ter
  • NP_001395325.1:p.Gln291Ter
  • NP_001395326.1:p.Gln291Ter
  • NP_001395327.1:p.Gln291Ter
  • NP_001395328.1:p.Gln291Ter
  • NP_001395329.1:p.Gln291Ter
  • NP_001395330.1:p.Gln291Ter
  • NP_001395331.1:p.Gln291Ter
  • NP_001395332.1:p.Gln292Ter
  • NP_001395333.1:p.Gln292Ter
  • NP_001395335.1:p.Gln290Ter
  • NP_001395336.1:p.Gln291Ter
  • NP_001395337.1:p.Gln289Ter
  • NP_001395338.1:p.Gln266Ter
  • NP_001395339.1:p.Gln245Ter
  • NP_001395340.1:p.Gln266Ter
  • NP_001395341.1:p.Gln266Ter
  • NP_001395342.1:p.Gln265Ter
  • NP_001395343.1:p.Gln266Ter
  • NP_001395344.1:p.Gln266Ter
  • NP_001395345.1:p.Gln265Ter
  • NP_001395347.1:p.Gln253Ter
  • NP_001395348.1:p.Gln253Ter
  • NP_001395349.1:p.Gln253Ter
  • NP_001395350.1:p.Gln252Ter
  • NP_001395351.1:p.Gln253Ter
  • NP_001395352.1:p.Gln253Ter
  • NP_001395353.1:p.Gln252Ter
  • NP_001395354.1:p.Gln251Ter
  • NP_001395355.1:p.Gln251Ter
  • NP_001395356.1:p.Gln251Ter
  • NP_001395357.1:p.Gln251Ter
  • NP_001395358.1:p.Gln251Ter
  • NP_001395359.1:p.Gln251Ter
  • NP_001395360.1:p.Gln252Ter
  • NP_001395361.1:p.Gln250Ter
  • NP_001395362.1:p.Gln250Ter
  • NP_001395363.1:p.Gln250Ter
  • NP_001395364.1:p.Gln250Ter
  • NP_001395365.1:p.Gln251Ter
  • NP_001395366.1:p.Gln251Ter
  • NP_001395367.1:p.Gln251Ter
  • NP_001395368.1:p.Gln251Ter
  • NP_001395369.1:p.Gln251Ter
  • NP_001395370.1:p.Gln251Ter
  • NP_001395371.1:p.Gln251Ter
  • NP_001395372.1:p.Gln251Ter
  • NP_001395373.1:p.Gln251Ter
  • NP_001395374.1:p.Gln250Ter
  • NP_001395375.1:p.Gln250Ter
  • NP_001395376.1:p.Gln250Ter
  • NP_001395377.1:p.Gln250Ter
  • NP_001395379.1:p.Gln250Ter
  • NP_001395380.1:p.Gln247Ter
  • NP_001395381.1:p.Gln245Ter
  • NP_001395382.1:p.Gln245Ter
  • NP_001395383.1:p.Gln245Ter
  • NP_001395384.1:p.Gln245Ter
  • NP_001395385.1:p.Gln245Ter
  • NP_001395386.1:p.Gln245Ter
  • NP_001395387.1:p.Gln245Ter
  • NP_001395388.1:p.Gln245Ter
  • NP_001395389.1:p.Gln245Ter
  • NP_001395390.1:p.Gln245Ter
  • NP_001395391.1:p.Gln244Ter
  • NP_001395392.1:p.Gln244Ter
  • NP_001395393.1:p.Gln244Ter
  • NP_001395394.1:p.Gln244Ter
  • NP_001395395.1:p.Gln245Ter
  • NP_001395396.1:p.Gln245Ter
  • NP_001395397.1:p.Gln244Ter
  • NP_001395398.1:p.Gln245Ter
  • NP_001395399.1:p.Gln244Ter
  • NP_001395401.1:p.Gln292Ter
  • NP_001395402.1:p.Gln291Ter
  • NP_001395403.1:p.Gln225Ter
  • NP_001395404.1:p.Gln224Ter
  • NP_001395405.1:p.Gln225Ter
  • NP_001395407.1:p.Gln222Ter
  • NP_001395408.1:p.Gln222Ter
  • NP_001395409.1:p.Gln222Ter
  • NP_001395410.1:p.Gln222Ter
  • NP_001395411.1:p.Gln222Ter
  • NP_001395412.1:p.Gln222Ter
  • NP_001395413.1:p.Gln222Ter
  • NP_001395414.1:p.Gln222Ter
  • NP_001395418.1:p.Gln222Ter
  • NP_001395419.1:p.Gln221Ter
  • NP_001395420.1:p.Gln221Ter
  • NP_001395421.1:p.Gln222Ter
  • NP_001395422.1:p.Gln221Ter
  • NP_001395423.1:p.Gln212Ter
  • NP_001395424.1:p.Gln211Ter
  • NP_001395425.1:p.Gln204Ter
  • NP_001395426.1:p.Gln204Ter
  • NP_001395427.1:p.Gln204Ter
  • NP_001395428.1:p.Gln204Ter
  • NP_001395429.1:p.Gln204Ter
  • NP_001395430.1:p.Gln204Ter
  • NP_001395431.1:p.Gln181Ter
  • NP_001395432.1:p.Gln203Ter
  • NP_001395433.1:p.Gln203Ter
  • NP_001395434.1:p.Gln203Ter
  • NP_001395435.1:p.Gln183Ter
  • NP_001395436.1:p.Gln183Ter
  • NP_001395437.1:p.Gln180Ter
  • NP_001395438.1:p.Gln180Ter
  • NP_001395439.1:p.Gln165Ter
  • NP_001395440.1:p.Gln164Ter
  • NP_001395441.1:p.Gln124Ter
  • NP_001395442.1:p.Gln222Ter
  • NP_001395443.1:p.Gln222Ter
  • NP_009225.1:p.Gln1395Ter
  • NP_009225.1:p.Gln1395Ter
  • NP_009228.2:p.Gln1348Ter
  • NP_009229.2:p.Gln292Ter
  • NP_009229.2:p.Gln292Ter
  • NP_009230.2:p.Gln292Ter
  • NP_009231.2:p.Gln1395Ter
  • NP_009235.2:p.Gln292Ter
  • LRG_292t1:c.4183C>T
  • LRG_292:g.127038C>T
  • LRG_292p1:p.Gln1395Ter
  • NC_000017.10:g.41242963G>A
  • NM_007294.3:c.4183C>T
  • NM_007298.3:c.874C>T
  • NM_007300.4:c.4183C>T
  • NR_027676.2:n.4360C>T
  • U14680.1:n.4302C>T
  • p.Gln1395*
  • p.Q1395*
Nucleotide change:
4302C>T
Protein change:
Q1099*
Links:
dbSNP: rs80357260
NCBI 1000 Genomes Browser:
rs80357260
Molecular consequence:
  • NR_027676.2:n.4360C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4174C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4174C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3982C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3979C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3979C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1579C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1579C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.739C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.670C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.631C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.541C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.493C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.490C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591497Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591497.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

The p.Gln1395X variant has been previously reported in the literature in 2 of 512 proband chromosomes from individuals with hereditary breast and ovarian cancer and absent from 100 control chromosomes (Langston 1996, Rashid 2006). In addition, this variant is reported in the BIC database 28x as clinically important and the UMD database 35x as causal. This variant leads to a premature stop codon at position 1395, which is predicted to lead to a truncated or absent protein product and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of hereditary breast and ovarian cancer. In summary, based on the above information, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 24, 2024