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NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 23, 2018
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:
RCV000657618.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)]

NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)

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.4201C>T (p.Gln1401Ter)
HGVS:
  • NC_000017.11:g.43082560G>A
  • NG_005905.2:g.135424C>T
  • NM_001407571.1:c.3988C>T
  • NM_001407581.1:c.4201C>T
  • NM_001407582.1:c.4201C>T
  • NM_001407583.1:c.4201C>T
  • NM_001407585.1:c.4201C>T
  • NM_001407587.1:c.4198C>T
  • NM_001407590.1:c.4198C>T
  • NM_001407591.1:c.4198C>T
  • NM_001407593.1:c.4201C>T
  • NM_001407594.1:c.4201C>T
  • NM_001407596.1:c.4201C>T
  • NM_001407597.1:c.4201C>T
  • NM_001407598.1:c.4201C>T
  • NM_001407602.1:c.4201C>T
  • NM_001407603.1:c.4201C>T
  • NM_001407605.1:c.4201C>T
  • NM_001407610.1:c.4198C>T
  • NM_001407611.1:c.4198C>T
  • NM_001407612.1:c.4198C>T
  • NM_001407613.1:c.4198C>T
  • NM_001407614.1:c.4198C>T
  • NM_001407615.1:c.4198C>T
  • NM_001407616.1:c.4201C>T
  • NM_001407617.1:c.4201C>T
  • NM_001407618.1:c.4201C>T
  • NM_001407619.1:c.4201C>T
  • NM_001407620.1:c.4201C>T
  • NM_001407621.1:c.4201C>T
  • NM_001407622.1:c.4201C>T
  • NM_001407623.1:c.4201C>T
  • NM_001407624.1:c.4198C>T
  • NM_001407625.1:c.4198C>T
  • NM_001407626.1:c.4198C>T
  • NM_001407627.1:c.4195C>T
  • NM_001407628.1:c.4195C>T
  • NM_001407629.1:c.4195C>T
  • NM_001407630.1:c.4195C>T
  • NM_001407631.1:c.4195C>T
  • NM_001407632.1:c.4195C>T
  • NM_001407633.1:c.4198C>T
  • NM_001407634.1:c.4198C>T
  • NM_001407635.1:c.4198C>T
  • NM_001407636.1:c.4198C>T
  • NM_001407637.1:c.4198C>T
  • NM_001407638.1:c.4198C>T
  • NM_001407639.1:c.4198C>T
  • NM_001407640.1:c.4198C>T
  • NM_001407641.1:c.4198C>T
  • NM_001407642.1:c.4198C>T
  • NM_001407644.1:c.4195C>T
  • NM_001407645.1:c.4195C>T
  • NM_001407646.1:c.4189C>T
  • NM_001407647.1:c.4189C>T
  • NM_001407648.1:c.4078C>T
  • NM_001407649.1:c.4075C>T
  • NM_001407652.1:c.4201C>T
  • NM_001407653.1:c.4123C>T
  • NM_001407654.1:c.4123C>T
  • NM_001407655.1:c.4123C>T
  • NM_001407656.1:c.4120C>T
  • NM_001407657.1:c.4123C>T
  • NM_001407658.1:c.4123C>T
  • NM_001407659.1:c.4117C>T
  • NM_001407660.1:c.4117C>T
  • NM_001407661.1:c.4120C>T
  • NM_001407662.1:c.4120C>T
  • NM_001407663.1:c.4120C>T
  • NM_001407664.1:c.4078C>T
  • NM_001407665.1:c.4078C>T
  • NM_001407666.1:c.4078C>T
  • NM_001407667.1:c.4078C>T
  • NM_001407668.1:c.4078C>T
  • NM_001407669.1:c.4078C>T
  • NM_001407670.1:c.4075C>T
  • NM_001407671.1:c.4075C>T
  • NM_001407672.1:c.4075C>T
  • NM_001407673.1:c.4075C>T
  • NM_001407674.1:c.4075C>T
  • NM_001407675.1:c.4075C>T
  • NM_001407676.1:c.4075C>T
  • NM_001407677.1:c.4078C>T
  • NM_001407678.1:c.4078C>T
  • NM_001407679.1:c.4078C>T
  • NM_001407680.1:c.4078C>T
  • NM_001407681.1:c.4075C>T
  • NM_001407682.1:c.4075C>T
  • NM_001407683.1:c.4075C>T
  • NM_001407684.1:c.4201C>T
  • NM_001407685.1:c.4072C>T
  • NM_001407686.1:c.4072C>T
  • NM_001407687.1:c.4072C>T
  • NM_001407688.1:c.4075C>T
  • NM_001407689.1:c.4075C>T
  • NM_001407690.1:c.4072C>T
  • NM_001407691.1:c.4072C>T
  • NM_001407692.1:c.4060C>T
  • NM_001407694.1:c.4060C>T
  • NM_001407695.1:c.4060C>T
  • NM_001407696.1:c.4060C>T
  • NM_001407697.1:c.4060C>T
  • NM_001407698.1:c.4060C>T
  • NM_001407724.1:c.4060C>T
  • NM_001407725.1:c.4060C>T
  • NM_001407726.1:c.4060C>T
  • NM_001407727.1:c.4060C>T
  • NM_001407728.1:c.4060C>T
  • NM_001407729.1:c.4060C>T
  • NM_001407730.1:c.4060C>T
  • NM_001407731.1:c.4060C>T
  • NM_001407732.1:c.4060C>T
  • NM_001407733.1:c.4060C>T
  • NM_001407734.1:c.4060C>T
  • NM_001407735.1:c.4060C>T
  • NM_001407736.1:c.4060C>T
  • NM_001407737.1:c.4060C>T
  • NM_001407738.1:c.4060C>T
  • NM_001407739.1:c.4060C>T
  • NM_001407740.1:c.4057C>T
  • NM_001407741.1:c.4057C>T
  • NM_001407742.1:c.4057C>T
  • NM_001407743.1:c.4057C>T
  • NM_001407744.1:c.4057C>T
  • NM_001407745.1:c.4057C>T
  • NM_001407746.1:c.4057C>T
  • NM_001407747.1:c.4057C>T
  • NM_001407748.1:c.4057C>T
  • NM_001407749.1:c.4057C>T
  • NM_001407750.1:c.4057C>T
  • NM_001407751.1:c.4057C>T
  • NM_001407752.1:c.4057C>T
  • NM_001407838.1:c.4057C>T
  • NM_001407839.1:c.4057C>T
  • NM_001407841.1:c.4057C>T
  • NM_001407842.1:c.4057C>T
  • NM_001407843.1:c.4057C>T
  • NM_001407844.1:c.4057C>T
  • NM_001407845.1:c.4057C>T
  • NM_001407846.1:c.4057C>T
  • NM_001407847.1:c.4054C>T
  • NM_001407848.1:c.4054C>T
  • NM_001407849.1:c.4054C>T
  • NM_001407850.1:c.4057C>T
  • NM_001407851.1:c.4057C>T
  • NM_001407852.1:c.4057C>T
  • NM_001407853.1:c.3988C>T
  • NM_001407854.1:c.4201C>T
  • NM_001407858.1:c.4201C>T
  • NM_001407859.1:c.4201C>T
  • NM_001407860.1:c.4198C>T
  • NM_001407861.1:c.4198C>T
  • NM_001407862.1:c.4000C>T
  • NM_001407863.1:c.4078C>T
  • NM_001407874.1:c.3997C>T
  • NM_001407875.1:c.3997C>T
  • NM_001407879.1:c.3991C>T
  • NM_001407881.1:c.3991C>T
  • NM_001407882.1:c.3991C>T
  • NM_001407884.1:c.3991C>T
  • NM_001407885.1:c.3991C>T
  • NM_001407886.1:c.3991C>T
  • NM_001407887.1:c.3991C>T
  • NM_001407889.1:c.3991C>T
  • NM_001407894.1:c.3988C>T
  • NM_001407895.1:c.3988C>T
  • NM_001407896.1:c.3988C>T
  • NM_001407897.1:c.3988C>T
  • NM_001407898.1:c.3988C>T
  • NM_001407899.1:c.3988C>T
  • NM_001407900.1:c.3991C>T
  • NM_001407902.1:c.3991C>T
  • NM_001407904.1:c.3991C>T
  • NM_001407906.1:c.3991C>T
  • NM_001407907.1:c.3988C>T
  • NM_001407908.1:c.3988C>T
  • NM_001407909.1:c.3988C>T
  • NM_001407910.1:c.3988C>T
  • NM_001407915.1:c.3985C>T
  • NM_001407916.1:c.3988C>T
  • NM_001407917.1:c.3988C>T
  • NM_001407918.1:c.3988C>T
  • NM_001407919.1:c.4078C>T
  • NM_001407920.1:c.3937C>T
  • NM_001407921.1:c.3937C>T
  • NM_001407922.1:c.3937C>T
  • NM_001407923.1:c.3937C>T
  • NM_001407924.1:c.3937C>T
  • NM_001407925.1:c.3937C>T
  • NM_001407926.1:c.3937C>T
  • NM_001407927.1:c.3937C>T
  • NM_001407928.1:c.3937C>T
  • NM_001407929.1:c.3937C>T
  • NM_001407930.1:c.3934C>T
  • NM_001407931.1:c.3934C>T
  • NM_001407932.1:c.3934C>T
  • NM_001407933.1:c.3934C>T
  • NM_001407934.1:c.3931C>T
  • NM_001407935.1:c.3934C>T
  • NM_001407936.1:c.3934C>T
  • NM_001407937.1:c.4078C>T
  • NM_001407938.1:c.4078C>T
  • NM_001407939.1:c.4078C>T
  • NM_001407940.1:c.4075C>T
  • NM_001407941.1:c.4075C>T
  • NM_001407942.1:c.4060C>T
  • NM_001407943.1:c.4057C>T
  • NM_001407944.1:c.4060C>T
  • NM_001407945.1:c.4060C>T
  • NM_001407946.1:c.3868C>T
  • NM_001407947.1:c.3868C>T
  • NM_001407948.1:c.3868C>T
  • NM_001407949.1:c.3868C>T
  • NM_001407950.1:c.3868C>T
  • NM_001407951.1:c.3868C>T
  • NM_001407952.1:c.3865C>T
  • NM_001407953.1:c.3865C>T
  • NM_001407954.1:c.3865C>T
  • NM_001407955.1:c.3865C>T
  • NM_001407956.1:c.3862C>T
  • NM_001407957.1:c.3865C>T
  • NM_001407958.1:c.3865C>T
  • NM_001407959.1:c.3820C>T
  • NM_001407960.1:c.3820C>T
  • NM_001407962.1:c.3817C>T
  • NM_001407963.1:c.3817C>T
  • NM_001407964.1:c.4057C>T
  • NM_001407965.1:c.3694C>T
  • NM_001407966.1:c.3313C>T
  • NM_001407967.1:c.3313C>T
  • NM_001407968.1:c.1597C>T
  • NM_001407969.1:c.1594C>T
  • NM_001407970.1:c.892C>T
  • NM_001407971.1:c.892C>T
  • NM_001407972.1:c.889C>T
  • NM_001407973.1:c.892C>T
  • NM_001407974.1:c.892C>T
  • NM_001407975.1:c.892C>T
  • NM_001407976.1:c.892C>T
  • NM_001407977.1:c.892C>T
  • NM_001407978.1:c.892C>T
  • NM_001407979.1:c.889C>T
  • NM_001407980.1:c.889C>T
  • NM_001407981.1:c.889C>T
  • NM_001407982.1:c.889C>T
  • NM_001407983.1:c.889C>T
  • NM_001407984.1:c.889C>T
  • NM_001407985.1:c.889C>T
  • NM_001407986.1:c.889C>T
  • NM_001407990.1:c.889C>T
  • NM_001407991.1:c.889C>T
  • NM_001407992.1:c.889C>T
  • NM_001407993.1:c.892C>T
  • NM_001408392.1:c.889C>T
  • NM_001408396.1:c.889C>T
  • NM_001408397.1:c.889C>T
  • NM_001408398.1:c.889C>T
  • NM_001408399.1:c.889C>T
  • NM_001408400.1:c.886C>T
  • NM_001408401.1:c.886C>T
  • NM_001408402.1:c.886C>T
  • NM_001408403.1:c.889C>T
  • NM_001408404.1:c.889C>T
  • NM_001408406.1:c.883C>T
  • NM_001408407.1:c.886C>T
  • NM_001408408.1:c.883C>T
  • NM_001408409.1:c.814C>T
  • NM_001408410.1:c.751C>T
  • NM_001408411.1:c.814C>T
  • NM_001408412.1:c.814C>T
  • NM_001408413.1:c.811C>T
  • NM_001408414.1:c.814C>T
  • NM_001408415.1:c.814C>T
  • NM_001408416.1:c.811C>T
  • NM_001408418.1:c.775C>T
  • NM_001408419.1:c.775C>T
  • NM_001408420.1:c.775C>T
  • NM_001408421.1:c.772C>T
  • NM_001408422.1:c.775C>T
  • NM_001408423.1:c.775C>T
  • NM_001408424.1:c.772C>T
  • NM_001408425.1:c.769C>T
  • NM_001408426.1:c.769C>T
  • NM_001408427.1:c.769C>T
  • NM_001408428.1:c.769C>T
  • NM_001408429.1:c.769C>T
  • NM_001408430.1:c.769C>T
  • NM_001408431.1:c.772C>T
  • NM_001408432.1:c.766C>T
  • NM_001408433.1:c.766C>T
  • NM_001408434.1:c.766C>T
  • NM_001408435.1:c.766C>T
  • NM_001408436.1:c.769C>T
  • NM_001408437.1:c.769C>T
  • NM_001408438.1:c.769C>T
  • NM_001408439.1:c.769C>T
  • NM_001408440.1:c.769C>T
  • NM_001408441.1:c.766C>T
  • NM_001408442.1:c.766C>T
  • NM_001408443.1:c.766C>T
  • NM_001408444.1:c.766C>T
  • NM_001408445.1:c.766C>T
  • NM_001408446.1:c.766C>T
  • NM_001408447.1:c.766C>T
  • NM_001408448.1:c.766C>T
  • NM_001408450.1:c.766C>T
  • NM_001408451.1:c.757C>T
  • NM_001408452.1:c.751C>T
  • NM_001408453.1:c.751C>T
  • NM_001408454.1:c.751C>T
  • NM_001408455.1:c.751C>T
  • NM_001408456.1:c.751C>T
  • NM_001408457.1:c.751C>T
  • NM_001408458.1:c.751C>T
  • NM_001408459.1:c.751C>T
  • NM_001408460.1:c.751C>T
  • NM_001408461.1:c.751C>T
  • NM_001408462.1:c.748C>T
  • NM_001408463.1:c.748C>T
  • NM_001408464.1:c.748C>T
  • NM_001408465.1:c.748C>T
  • NM_001408466.1:c.748C>T
  • NM_001408467.1:c.748C>T
  • NM_001408468.1:c.748C>T
  • NM_001408469.1:c.748C>T
  • NM_001408470.1:c.745C>T
  • NM_001408472.1:c.889C>T
  • NM_001408473.1:c.889C>T
  • NM_001408474.1:c.691C>T
  • NM_001408475.1:c.688C>T
  • NM_001408476.1:c.691C>T
  • NM_001408478.1:c.682C>T
  • NM_001408479.1:c.682C>T
  • NM_001408480.1:c.682C>T
  • NM_001408481.1:c.682C>T
  • NM_001408482.1:c.682C>T
  • NM_001408483.1:c.682C>T
  • NM_001408484.1:c.682C>T
  • NM_001408485.1:c.682C>T
  • NM_001408489.1:c.679C>T
  • NM_001408490.1:c.679C>T
  • NM_001408491.1:c.679C>T
  • NM_001408492.1:c.679C>T
  • NM_001408493.1:c.679C>T
  • NM_001408494.1:c.652C>T
  • NM_001408495.1:c.649C>T
  • NM_001408496.1:c.628C>T
  • NM_001408497.1:c.628C>T
  • NM_001408498.1:c.628C>T
  • NM_001408499.1:c.628C>T
  • NM_001408500.1:c.628C>T
  • NM_001408501.1:c.628C>T
  • NM_001408502.1:c.559C>T
  • NM_001408503.1:c.625C>T
  • NM_001408504.1:c.625C>T
  • NM_001408505.1:c.625C>T
  • NM_001408506.1:c.565C>T
  • NM_001408507.1:c.562C>T
  • NM_001408508.1:c.553C>T
  • NM_001408509.1:c.553C>T
  • NM_001408510.1:c.511C>T
  • NM_001408511.1:c.508C>T
  • NM_001408512.1:c.388C>T
  • NM_001408513.1:c.679C>T
  • NM_001408514.1:c.682C>T
  • NM_007294.4:c.4201C>TMANE SELECT
  • NM_007297.4:c.4060C>T
  • NM_007298.4:c.892C>T
  • NM_007299.4:c.892C>T
  • NM_007300.4:c.4201C>T
  • NM_007304.2:c.892C>T
  • NP_001394500.1:p.Gln1330Ter
  • NP_001394510.1:p.Gln1401Ter
  • NP_001394511.1:p.Gln1401Ter
  • NP_001394512.1:p.Gln1401Ter
  • NP_001394514.1:p.Gln1401Ter
  • NP_001394516.1:p.Gln1400Ter
  • NP_001394519.1:p.Gln1400Ter
  • NP_001394520.1:p.Gln1400Ter
  • NP_001394522.1:p.Gln1401Ter
  • NP_001394523.1:p.Gln1401Ter
  • NP_001394525.1:p.Gln1401Ter
  • NP_001394526.1:p.Gln1401Ter
  • NP_001394527.1:p.Gln1401Ter
  • NP_001394531.1:p.Gln1401Ter
  • NP_001394532.1:p.Gln1401Ter
  • NP_001394534.1:p.Gln1401Ter
  • NP_001394539.1:p.Gln1400Ter
  • NP_001394540.1:p.Gln1400Ter
  • NP_001394541.1:p.Gln1400Ter
  • NP_001394542.1:p.Gln1400Ter
  • NP_001394543.1:p.Gln1400Ter
  • NP_001394544.1:p.Gln1400Ter
  • NP_001394545.1:p.Gln1401Ter
  • NP_001394546.1:p.Gln1401Ter
  • NP_001394547.1:p.Gln1401Ter
  • NP_001394548.1:p.Gln1401Ter
  • NP_001394549.1:p.Gln1401Ter
  • NP_001394550.1:p.Gln1401Ter
  • NP_001394551.1:p.Gln1401Ter
  • NP_001394552.1:p.Gln1401Ter
  • NP_001394553.1:p.Gln1400Ter
  • NP_001394554.1:p.Gln1400Ter
  • NP_001394555.1:p.Gln1400Ter
  • NP_001394556.1:p.Gln1399Ter
  • NP_001394557.1:p.Gln1399Ter
  • NP_001394558.1:p.Gln1399Ter
  • NP_001394559.1:p.Gln1399Ter
  • NP_001394560.1:p.Gln1399Ter
  • NP_001394561.1:p.Gln1399Ter
  • NP_001394562.1:p.Gln1400Ter
  • NP_001394563.1:p.Gln1400Ter
  • NP_001394564.1:p.Gln1400Ter
  • NP_001394565.1:p.Gln1400Ter
  • NP_001394566.1:p.Gln1400Ter
  • NP_001394567.1:p.Gln1400Ter
  • NP_001394568.1:p.Gln1400Ter
  • NP_001394569.1:p.Gln1400Ter
  • NP_001394570.1:p.Gln1400Ter
  • NP_001394571.1:p.Gln1400Ter
  • NP_001394573.1:p.Gln1399Ter
  • NP_001394574.1:p.Gln1399Ter
  • NP_001394575.1:p.Gln1397Ter
  • NP_001394576.1:p.Gln1397Ter
  • NP_001394577.1:p.Gln1360Ter
  • NP_001394578.1:p.Gln1359Ter
  • NP_001394581.1:p.Gln1401Ter
  • NP_001394582.1:p.Gln1375Ter
  • NP_001394583.1:p.Gln1375Ter
  • NP_001394584.1:p.Gln1375Ter
  • NP_001394585.1:p.Gln1374Ter
  • NP_001394586.1:p.Gln1375Ter
  • NP_001394587.1:p.Gln1375Ter
  • NP_001394588.1:p.Gln1373Ter
  • NP_001394589.1:p.Gln1373Ter
  • NP_001394590.1:p.Gln1374Ter
  • NP_001394591.1:p.Gln1374Ter
  • NP_001394592.1:p.Gln1374Ter
  • NP_001394593.1:p.Gln1360Ter
  • NP_001394594.1:p.Gln1360Ter
  • NP_001394595.1:p.Gln1360Ter
  • NP_001394596.1:p.Gln1360Ter
  • NP_001394597.1:p.Gln1360Ter
  • NP_001394598.1:p.Gln1360Ter
  • NP_001394599.1:p.Gln1359Ter
  • NP_001394600.1:p.Gln1359Ter
  • NP_001394601.1:p.Gln1359Ter
  • NP_001394602.1:p.Gln1359Ter
  • NP_001394603.1:p.Gln1359Ter
  • NP_001394604.1:p.Gln1359Ter
  • NP_001394605.1:p.Gln1359Ter
  • NP_001394606.1:p.Gln1360Ter
  • NP_001394607.1:p.Gln1360Ter
  • NP_001394608.1:p.Gln1360Ter
  • NP_001394609.1:p.Gln1360Ter
  • NP_001394610.1:p.Gln1359Ter
  • NP_001394611.1:p.Gln1359Ter
  • NP_001394612.1:p.Gln1359Ter
  • NP_001394613.1:p.Gln1401Ter
  • NP_001394614.1:p.Gln1358Ter
  • NP_001394615.1:p.Gln1358Ter
  • NP_001394616.1:p.Gln1358Ter
  • NP_001394617.1:p.Gln1359Ter
  • NP_001394618.1:p.Gln1359Ter
  • NP_001394619.1:p.Gln1358Ter
  • NP_001394620.1:p.Gln1358Ter
  • NP_001394621.1:p.Gln1354Ter
  • NP_001394623.1:p.Gln1354Ter
  • NP_001394624.1:p.Gln1354Ter
  • NP_001394625.1:p.Gln1354Ter
  • NP_001394626.1:p.Gln1354Ter
  • NP_001394627.1:p.Gln1354Ter
  • NP_001394653.1:p.Gln1354Ter
  • NP_001394654.1:p.Gln1354Ter
  • NP_001394655.1:p.Gln1354Ter
  • NP_001394656.1:p.Gln1354Ter
  • NP_001394657.1:p.Gln1354Ter
  • NP_001394658.1:p.Gln1354Ter
  • NP_001394659.1:p.Gln1354Ter
  • NP_001394660.1:p.Gln1354Ter
  • NP_001394661.1:p.Gln1354Ter
  • NP_001394662.1:p.Gln1354Ter
  • NP_001394663.1:p.Gln1354Ter
  • NP_001394664.1:p.Gln1354Ter
  • NP_001394665.1:p.Gln1354Ter
  • NP_001394666.1:p.Gln1354Ter
  • NP_001394667.1:p.Gln1354Ter
  • NP_001394668.1:p.Gln1354Ter
  • NP_001394669.1:p.Gln1353Ter
  • NP_001394670.1:p.Gln1353Ter
  • NP_001394671.1:p.Gln1353Ter
  • NP_001394672.1:p.Gln1353Ter
  • NP_001394673.1:p.Gln1353Ter
  • NP_001394674.1:p.Gln1353Ter
  • NP_001394675.1:p.Gln1353Ter
  • NP_001394676.1:p.Gln1353Ter
  • NP_001394677.1:p.Gln1353Ter
  • NP_001394678.1:p.Gln1353Ter
  • NP_001394679.1:p.Gln1353Ter
  • NP_001394680.1:p.Gln1353Ter
  • NP_001394681.1:p.Gln1353Ter
  • NP_001394767.1:p.Gln1353Ter
  • NP_001394768.1:p.Gln1353Ter
  • NP_001394770.1:p.Gln1353Ter
  • NP_001394771.1:p.Gln1353Ter
  • NP_001394772.1:p.Gln1353Ter
  • NP_001394773.1:p.Gln1353Ter
  • NP_001394774.1:p.Gln1353Ter
  • NP_001394775.1:p.Gln1353Ter
  • NP_001394776.1:p.Gln1352Ter
  • NP_001394777.1:p.Gln1352Ter
  • NP_001394778.1:p.Gln1352Ter
  • NP_001394779.1:p.Gln1353Ter
  • NP_001394780.1:p.Gln1353Ter
  • NP_001394781.1:p.Gln1353Ter
  • NP_001394782.1:p.Gln1330Ter
  • NP_001394783.1:p.Gln1401Ter
  • NP_001394787.1:p.Gln1401Ter
  • NP_001394788.1:p.Gln1401Ter
  • NP_001394789.1:p.Gln1400Ter
  • NP_001394790.1:p.Gln1400Ter
  • NP_001394791.1:p.Gln1334Ter
  • NP_001394792.1:p.Gln1360Ter
  • NP_001394803.1:p.Gln1333Ter
  • NP_001394804.1:p.Gln1333Ter
  • NP_001394808.1:p.Gln1331Ter
  • NP_001394810.1:p.Gln1331Ter
  • NP_001394811.1:p.Gln1331Ter
  • NP_001394813.1:p.Gln1331Ter
  • NP_001394814.1:p.Gln1331Ter
  • NP_001394815.1:p.Gln1331Ter
  • NP_001394816.1:p.Gln1331Ter
  • NP_001394818.1:p.Gln1331Ter
  • NP_001394823.1:p.Gln1330Ter
  • NP_001394824.1:p.Gln1330Ter
  • NP_001394825.1:p.Gln1330Ter
  • NP_001394826.1:p.Gln1330Ter
  • NP_001394827.1:p.Gln1330Ter
  • NP_001394828.1:p.Gln1330Ter
  • NP_001394829.1:p.Gln1331Ter
  • NP_001394831.1:p.Gln1331Ter
  • NP_001394833.1:p.Gln1331Ter
  • NP_001394835.1:p.Gln1331Ter
  • NP_001394836.1:p.Gln1330Ter
  • NP_001394837.1:p.Gln1330Ter
  • NP_001394838.1:p.Gln1330Ter
  • NP_001394839.1:p.Gln1330Ter
  • NP_001394844.1:p.Gln1329Ter
  • NP_001394845.1:p.Gln1330Ter
  • NP_001394846.1:p.Gln1330Ter
  • NP_001394847.1:p.Gln1330Ter
  • NP_001394848.1:p.Gln1360Ter
  • NP_001394849.1:p.Gln1313Ter
  • NP_001394850.1:p.Gln1313Ter
  • NP_001394851.1:p.Gln1313Ter
  • NP_001394852.1:p.Gln1313Ter
  • NP_001394853.1:p.Gln1313Ter
  • NP_001394854.1:p.Gln1313Ter
  • NP_001394855.1:p.Gln1313Ter
  • NP_001394856.1:p.Gln1313Ter
  • NP_001394857.1:p.Gln1313Ter
  • NP_001394858.1:p.Gln1313Ter
  • NP_001394859.1:p.Gln1312Ter
  • NP_001394860.1:p.Gln1312Ter
  • NP_001394861.1:p.Gln1312Ter
  • NP_001394862.1:p.Gln1312Ter
  • NP_001394863.1:p.Gln1311Ter
  • NP_001394864.1:p.Gln1312Ter
  • NP_001394865.1:p.Gln1312Ter
  • NP_001394866.1:p.Gln1360Ter
  • NP_001394867.1:p.Gln1360Ter
  • NP_001394868.1:p.Gln1360Ter
  • NP_001394869.1:p.Gln1359Ter
  • NP_001394870.1:p.Gln1359Ter
  • NP_001394871.1:p.Gln1354Ter
  • NP_001394872.1:p.Gln1353Ter
  • NP_001394873.1:p.Gln1354Ter
  • NP_001394874.1:p.Gln1354Ter
  • NP_001394875.1:p.Gln1290Ter
  • NP_001394876.1:p.Gln1290Ter
  • NP_001394877.1:p.Gln1290Ter
  • NP_001394878.1:p.Gln1290Ter
  • NP_001394879.1:p.Gln1290Ter
  • NP_001394880.1:p.Gln1290Ter
  • NP_001394881.1:p.Gln1289Ter
  • NP_001394882.1:p.Gln1289Ter
  • NP_001394883.1:p.Gln1289Ter
  • NP_001394884.1:p.Gln1289Ter
  • NP_001394885.1:p.Gln1288Ter
  • NP_001394886.1:p.Gln1289Ter
  • NP_001394887.1:p.Gln1289Ter
  • NP_001394888.1:p.Gln1274Ter
  • NP_001394889.1:p.Gln1274Ter
  • NP_001394891.1:p.Gln1273Ter
  • NP_001394892.1:p.Gln1273Ter
  • NP_001394893.1:p.Gln1353Ter
  • NP_001394894.1:p.Gln1232Ter
  • NP_001394895.1:p.Gln1105Ter
  • NP_001394896.1:p.Gln1105Ter
  • NP_001394897.1:p.Gln533Ter
  • NP_001394898.1:p.Gln532Ter
  • NP_001394899.1:p.Gln298Ter
  • NP_001394900.1:p.Gln298Ter
  • NP_001394901.1:p.Gln297Ter
  • NP_001394902.1:p.Gln298Ter
  • NP_001394903.1:p.Gln298Ter
  • NP_001394904.1:p.Gln298Ter
  • NP_001394905.1:p.Gln298Ter
  • NP_001394906.1:p.Gln298Ter
  • NP_001394907.1:p.Gln298Ter
  • NP_001394908.1:p.Gln297Ter
  • NP_001394909.1:p.Gln297Ter
  • NP_001394910.1:p.Gln297Ter
  • NP_001394911.1:p.Gln297Ter
  • NP_001394912.1:p.Gln297Ter
  • NP_001394913.1:p.Gln297Ter
  • NP_001394914.1:p.Gln297Ter
  • NP_001394915.1:p.Gln297Ter
  • NP_001394919.1:p.Gln297Ter
  • NP_001394920.1:p.Gln297Ter
  • NP_001394921.1:p.Gln297Ter
  • NP_001394922.1:p.Gln298Ter
  • NP_001395321.1:p.Gln297Ter
  • NP_001395325.1:p.Gln297Ter
  • NP_001395326.1:p.Gln297Ter
  • NP_001395327.1:p.Gln297Ter
  • NP_001395328.1:p.Gln297Ter
  • NP_001395329.1:p.Gln296Ter
  • NP_001395330.1:p.Gln296Ter
  • NP_001395331.1:p.Gln296Ter
  • NP_001395332.1:p.Gln297Ter
  • NP_001395333.1:p.Gln297Ter
  • NP_001395335.1:p.Gln295Ter
  • NP_001395336.1:p.Gln296Ter
  • NP_001395337.1:p.Gln295Ter
  • NP_001395338.1:p.Gln272Ter
  • NP_001395339.1:p.Gln251Ter
  • NP_001395340.1:p.Gln272Ter
  • NP_001395341.1:p.Gln272Ter
  • NP_001395342.1:p.Gln271Ter
  • NP_001395343.1:p.Gln272Ter
  • NP_001395344.1:p.Gln272Ter
  • NP_001395345.1:p.Gln271Ter
  • NP_001395347.1:p.Gln259Ter
  • NP_001395348.1:p.Gln259Ter
  • NP_001395349.1:p.Gln259Ter
  • NP_001395350.1:p.Gln258Ter
  • NP_001395351.1:p.Gln259Ter
  • NP_001395352.1:p.Gln259Ter
  • NP_001395353.1:p.Gln258Ter
  • NP_001395354.1:p.Gln257Ter
  • NP_001395355.1:p.Gln257Ter
  • NP_001395356.1:p.Gln257Ter
  • NP_001395357.1:p.Gln257Ter
  • NP_001395358.1:p.Gln257Ter
  • NP_001395359.1:p.Gln257Ter
  • NP_001395360.1:p.Gln258Ter
  • NP_001395361.1:p.Gln256Ter
  • NP_001395362.1:p.Gln256Ter
  • NP_001395363.1:p.Gln256Ter
  • NP_001395364.1:p.Gln256Ter
  • NP_001395365.1:p.Gln257Ter
  • NP_001395366.1:p.Gln257Ter
  • NP_001395367.1:p.Gln257Ter
  • NP_001395368.1:p.Gln257Ter
  • NP_001395369.1:p.Gln257Ter
  • NP_001395370.1:p.Gln256Ter
  • NP_001395371.1:p.Gln256Ter
  • NP_001395372.1:p.Gln256Ter
  • NP_001395373.1:p.Gln256Ter
  • NP_001395374.1:p.Gln256Ter
  • NP_001395375.1:p.Gln256Ter
  • NP_001395376.1:p.Gln256Ter
  • NP_001395377.1:p.Gln256Ter
  • NP_001395379.1:p.Gln256Ter
  • NP_001395380.1:p.Gln253Ter
  • NP_001395381.1:p.Gln251Ter
  • NP_001395382.1:p.Gln251Ter
  • NP_001395383.1:p.Gln251Ter
  • NP_001395384.1:p.Gln251Ter
  • NP_001395385.1:p.Gln251Ter
  • NP_001395386.1:p.Gln251Ter
  • NP_001395387.1:p.Gln251Ter
  • NP_001395388.1:p.Gln251Ter
  • NP_001395389.1:p.Gln251Ter
  • NP_001395390.1:p.Gln251Ter
  • NP_001395391.1:p.Gln250Ter
  • NP_001395392.1:p.Gln250Ter
  • NP_001395393.1:p.Gln250Ter
  • NP_001395394.1:p.Gln250Ter
  • NP_001395395.1:p.Gln250Ter
  • NP_001395396.1:p.Gln250Ter
  • NP_001395397.1:p.Gln250Ter
  • NP_001395398.1:p.Gln250Ter
  • NP_001395399.1:p.Gln249Ter
  • NP_001395401.1:p.Gln297Ter
  • NP_001395402.1:p.Gln297Ter
  • NP_001395403.1:p.Gln231Ter
  • NP_001395404.1:p.Gln230Ter
  • NP_001395405.1:p.Gln231Ter
  • NP_001395407.1:p.Gln228Ter
  • NP_001395408.1:p.Gln228Ter
  • NP_001395409.1:p.Gln228Ter
  • NP_001395410.1:p.Gln228Ter
  • NP_001395411.1:p.Gln228Ter
  • NP_001395412.1:p.Gln228Ter
  • NP_001395413.1:p.Gln228Ter
  • NP_001395414.1:p.Gln228Ter
  • NP_001395418.1:p.Gln227Ter
  • NP_001395419.1:p.Gln227Ter
  • NP_001395420.1:p.Gln227Ter
  • NP_001395421.1:p.Gln227Ter
  • NP_001395422.1:p.Gln227Ter
  • NP_001395423.1:p.Gln218Ter
  • NP_001395424.1:p.Gln217Ter
  • NP_001395425.1:p.Gln210Ter
  • NP_001395426.1:p.Gln210Ter
  • NP_001395427.1:p.Gln210Ter
  • NP_001395428.1:p.Gln210Ter
  • NP_001395429.1:p.Gln210Ter
  • NP_001395430.1:p.Gln210Ter
  • NP_001395431.1:p.Gln187Ter
  • NP_001395432.1:p.Gln209Ter
  • NP_001395433.1:p.Gln209Ter
  • NP_001395434.1:p.Gln209Ter
  • NP_001395435.1:p.Gln189Ter
  • NP_001395436.1:p.Gln188Ter
  • NP_001395437.1:p.Gln185Ter
  • NP_001395438.1:p.Gln185Ter
  • NP_001395439.1:p.Gln171Ter
  • NP_001395440.1:p.Gln170Ter
  • NP_001395441.1:p.Gln130Ter
  • NP_001395442.1:p.Gln227Ter
  • NP_001395443.1:p.Gln228Ter
  • NP_009225.1:p.Gln1401Ter
  • NP_009225.1:p.Gln1401Ter
  • NP_009228.2:p.Gln1354Ter
  • NP_009229.2:p.Gln298Ter
  • NP_009229.2:p.Gln298Ter
  • NP_009230.2:p.Gln298Ter
  • NP_009231.2:p.Gln1401Ter
  • NP_009235.2:p.Gln298Ter
  • LRG_292t1:c.4201C>T
  • LRG_292:g.135424C>T
  • LRG_292p1:p.Gln1401Ter
  • NC_000017.10:g.41234577G>A
  • NM_007294.3:c.4201C>T
  • NM_007298.3:c.892C>T
  • NR_027676.2:n.4378C>T
Nucleotide change:
4320C>T
Protein change:
Q1105*
Links:
dbSNP: rs397509151
NCBI 1000 Genomes Browser:
rs397509151
Molecular consequence:
  • NR_027676.2:n.4378C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4189C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4189C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.4123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.4123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.4123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.4120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.4123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.4123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.4117C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.4117C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.4120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.4120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.4120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.4072C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.4072C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.4072C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.4072C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.4072C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.4054C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.4054C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.4054C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4198C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.4000C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3997C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3997C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3931C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3934C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.4075C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3820C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3820C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3817C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3817C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3694C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3313C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3313C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.886C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.886C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.886C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.886C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.811C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.811C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.766C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.745C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.688C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.559C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.565C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.562C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779360GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 23, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779360.2

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

Description

This variant is denoted BRCA1 c.4201C>T at the cDNA level and p.Gln1401Ter (Q1401X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA1 4320C>T using alternate nomenclature, has been observed in at least one individual with a personal and/or family history of breast and/or ovarian cancer and is considered pathogenic (Caux-Moncoutier 2011).

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

Last Updated: Jun 23, 2024