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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 30, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000778172.11

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:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914330A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Jan 30, 2019) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV004174184Diagnostics Centre, Carl Von Ossietzky University Oldenburg
no assertion criteria provided
Pathogenic
(Sep 25, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing, research

Citations

PubMed

BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.

Brianese RC, Nakamura KDM, Almeida FGDSR, Ramalho RF, Barros BDF, Ferreira ENE, Formiga MNDC, de Andrade VP, de Lima VCC, Carraro DM.

Breast Cancer Res Treat. 2018 Feb;167(3):803-814. doi: 10.1007/s10549-017-4552-6. Epub 2017 Nov 7.

PubMed [citation]
PMID:
29116469

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938
See all PubMed Citations (9)

Details of each submission

From A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center, SCV000914330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Diagnostics Centre, Carl Von Ossietzky University Oldenburg, SCV004174184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (8)

Description

The variant BRCA1:c.4183C>T p.(Gln1395Ter) , which is located in the coding exon 11 of the BRCA1 gene, results from a cytosine-to-thymine substitution at nucleotide position 4183. The glutamine at protein position 1395 is replaced by a premature stop codon which is predicted to cause protein truncation or absence due to non-sense mediated decay. The variant has already been extensively published in unrelated individuals with personal and fammilial history of breast cancer (PMID: 29446198, 22006311, 8531967, 30322717) and also co-segregates with the disease (PMID: 15340362, 20104584, 29907814). It is considered a Tyrolean founder mutation (PMID: 26014432). In the ClinVar database, the variant have multiple entries (25) for Pathogenic or Likely pathogenic (VCV000055125.41) and is assessed as Pathogenic by the ENIGMA expert committee. This variant is very rare in the overall population (no carriers in gnomAD, gnomAD V3.1.2). The variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024