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NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 6, 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:
RCV001021760.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)]

NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
HGVS:
  • NC_000017.11:g.43091477C>A
  • NG_005905.2:g.126507G>T
  • NG_087068.1:g.459C>A
  • NM_001407571.1:c.3841G>T
  • NM_001407581.1:c.4054G>T
  • NM_001407582.1:c.4054G>T
  • NM_001407583.1:c.4054G>T
  • NM_001407585.1:c.4054G>T
  • NM_001407587.1:c.4051G>T
  • NM_001407590.1:c.4051G>T
  • NM_001407591.1:c.4051G>T
  • NM_001407593.1:c.4054G>T
  • NM_001407594.1:c.4054G>T
  • NM_001407596.1:c.4054G>T
  • NM_001407597.1:c.4054G>T
  • NM_001407598.1:c.4054G>T
  • NM_001407602.1:c.4054G>T
  • NM_001407603.1:c.4054G>T
  • NM_001407605.1:c.4054G>T
  • NM_001407610.1:c.4051G>T
  • NM_001407611.1:c.4051G>T
  • NM_001407612.1:c.4051G>T
  • NM_001407613.1:c.4051G>T
  • NM_001407614.1:c.4051G>T
  • NM_001407615.1:c.4051G>T
  • NM_001407616.1:c.4054G>T
  • NM_001407617.1:c.4054G>T
  • NM_001407618.1:c.4054G>T
  • NM_001407619.1:c.4054G>T
  • NM_001407620.1:c.4054G>T
  • NM_001407621.1:c.4054G>T
  • NM_001407622.1:c.4054G>T
  • NM_001407623.1:c.4054G>T
  • NM_001407624.1:c.4054G>T
  • NM_001407625.1:c.4054G>T
  • NM_001407626.1:c.4054G>T
  • NM_001407627.1:c.4051G>T
  • NM_001407628.1:c.4051G>T
  • NM_001407629.1:c.4051G>T
  • NM_001407630.1:c.4051G>T
  • NM_001407631.1:c.4051G>T
  • NM_001407632.1:c.4051G>T
  • NM_001407633.1:c.4051G>T
  • NM_001407634.1:c.4051G>T
  • NM_001407635.1:c.4051G>T
  • NM_001407636.1:c.4051G>T
  • NM_001407637.1:c.4051G>T
  • NM_001407638.1:c.4051G>T
  • NM_001407639.1:c.4054G>T
  • NM_001407640.1:c.4054G>T
  • NM_001407641.1:c.4054G>T
  • NM_001407642.1:c.4054G>T
  • NM_001407644.1:c.4051G>T
  • NM_001407645.1:c.4051G>T
  • NM_001407646.1:c.4045G>T
  • NM_001407647.1:c.4045G>T
  • NM_001407648.1:c.3931G>T
  • NM_001407649.1:c.3928G>T
  • NM_001407652.1:c.4054G>T
  • NM_001407653.1:c.3976G>T
  • NM_001407654.1:c.3976G>T
  • NM_001407655.1:c.3976G>T
  • NM_001407656.1:c.3976G>T
  • NM_001407657.1:c.3976G>T
  • NM_001407658.1:c.3976G>T
  • NM_001407659.1:c.3973G>T
  • NM_001407660.1:c.3973G>T
  • NM_001407661.1:c.3973G>T
  • NM_001407662.1:c.3973G>T
  • NM_001407663.1:c.3976G>T
  • NM_001407664.1:c.3931G>T
  • NM_001407665.1:c.3931G>T
  • NM_001407666.1:c.3931G>T
  • NM_001407667.1:c.3931G>T
  • NM_001407668.1:c.3931G>T
  • NM_001407669.1:c.3931G>T
  • NM_001407670.1:c.3928G>T
  • NM_001407671.1:c.3928G>T
  • NM_001407672.1:c.3928G>T
  • NM_001407673.1:c.3928G>T
  • NM_001407674.1:c.3931G>T
  • NM_001407675.1:c.3931G>T
  • NM_001407676.1:c.3931G>T
  • NM_001407677.1:c.3931G>T
  • NM_001407678.1:c.3931G>T
  • NM_001407679.1:c.3931G>T
  • NM_001407680.1:c.3931G>T
  • NM_001407681.1:c.3931G>T
  • NM_001407682.1:c.3931G>T
  • NM_001407683.1:c.3931G>T
  • NM_001407684.1:c.4054G>T
  • NM_001407685.1:c.3928G>T
  • NM_001407686.1:c.3928G>T
  • NM_001407687.1:c.3928G>T
  • NM_001407688.1:c.3928G>T
  • NM_001407689.1:c.3928G>T
  • NM_001407690.1:c.3928G>T
  • NM_001407691.1:c.3928G>T
  • NM_001407692.1:c.3913G>T
  • NM_001407694.1:c.3913G>T
  • NM_001407695.1:c.3913G>T
  • NM_001407696.1:c.3913G>T
  • NM_001407697.1:c.3913G>T
  • NM_001407698.1:c.3913G>T
  • NM_001407724.1:c.3913G>T
  • NM_001407725.1:c.3913G>T
  • NM_001407726.1:c.3913G>T
  • NM_001407727.1:c.3913G>T
  • NM_001407728.1:c.3913G>T
  • NM_001407729.1:c.3913G>T
  • NM_001407730.1:c.3913G>T
  • NM_001407731.1:c.3913G>T
  • NM_001407732.1:c.3913G>T
  • NM_001407733.1:c.3913G>T
  • NM_001407734.1:c.3913G>T
  • NM_001407735.1:c.3913G>T
  • NM_001407736.1:c.3913G>T
  • NM_001407737.1:c.3913G>T
  • NM_001407738.1:c.3913G>T
  • NM_001407739.1:c.3913G>T
  • NM_001407740.1:c.3910G>T
  • NM_001407741.1:c.3910G>T
  • NM_001407742.1:c.3910G>T
  • NM_001407743.1:c.3910G>T
  • NM_001407744.1:c.3910G>T
  • NM_001407745.1:c.3910G>T
  • NM_001407746.1:c.3910G>T
  • NM_001407747.1:c.3910G>T
  • NM_001407748.1:c.3910G>T
  • NM_001407749.1:c.3910G>T
  • NM_001407750.1:c.3913G>T
  • NM_001407751.1:c.3913G>T
  • NM_001407752.1:c.3913G>T
  • NM_001407838.1:c.3910G>T
  • NM_001407839.1:c.3910G>T
  • NM_001407841.1:c.3910G>T
  • NM_001407842.1:c.3910G>T
  • NM_001407843.1:c.3910G>T
  • NM_001407844.1:c.3910G>T
  • NM_001407845.1:c.3910G>T
  • NM_001407846.1:c.3910G>T
  • NM_001407847.1:c.3910G>T
  • NM_001407848.1:c.3910G>T
  • NM_001407849.1:c.3910G>T
  • NM_001407850.1:c.3913G>T
  • NM_001407851.1:c.3913G>T
  • NM_001407852.1:c.3913G>T
  • NM_001407853.1:c.3841G>T
  • NM_001407854.1:c.4054G>T
  • NM_001407858.1:c.4054G>T
  • NM_001407859.1:c.4054G>T
  • NM_001407860.1:c.4051G>T
  • NM_001407861.1:c.4051G>T
  • NM_001407862.1:c.3853G>T
  • NM_001407863.1:c.3931G>T
  • NM_001407874.1:c.3850G>T
  • NM_001407875.1:c.3850G>T
  • NM_001407879.1:c.3844G>T
  • NM_001407881.1:c.3844G>T
  • NM_001407882.1:c.3844G>T
  • NM_001407884.1:c.3844G>T
  • NM_001407885.1:c.3844G>T
  • NM_001407886.1:c.3844G>T
  • NM_001407887.1:c.3844G>T
  • NM_001407889.1:c.3844G>T
  • NM_001407894.1:c.3841G>T
  • NM_001407895.1:c.3841G>T
  • NM_001407896.1:c.3841G>T
  • NM_001407897.1:c.3841G>T
  • NM_001407898.1:c.3841G>T
  • NM_001407899.1:c.3841G>T
  • NM_001407900.1:c.3844G>T
  • NM_001407902.1:c.3844G>T
  • NM_001407904.1:c.3844G>T
  • NM_001407906.1:c.3844G>T
  • NM_001407907.1:c.3844G>T
  • NM_001407908.1:c.3844G>T
  • NM_001407909.1:c.3844G>T
  • NM_001407910.1:c.3844G>T
  • NM_001407915.1:c.3841G>T
  • NM_001407916.1:c.3841G>T
  • NM_001407917.1:c.3841G>T
  • NM_001407918.1:c.3841G>T
  • NM_001407919.1:c.3931G>T
  • NM_001407920.1:c.3790G>T
  • NM_001407921.1:c.3790G>T
  • NM_001407922.1:c.3790G>T
  • NM_001407923.1:c.3790G>T
  • NM_001407924.1:c.3790G>T
  • NM_001407925.1:c.3790G>T
  • NM_001407926.1:c.3790G>T
  • NM_001407927.1:c.3790G>T
  • NM_001407928.1:c.3790G>T
  • NM_001407929.1:c.3790G>T
  • NM_001407930.1:c.3787G>T
  • NM_001407931.1:c.3787G>T
  • NM_001407932.1:c.3787G>T
  • NM_001407933.1:c.3790G>T
  • NM_001407934.1:c.3787G>T
  • NM_001407935.1:c.3790G>T
  • NM_001407936.1:c.3787G>T
  • NM_001407937.1:c.3931G>T
  • NM_001407938.1:c.3931G>T
  • NM_001407939.1:c.3931G>T
  • NM_001407940.1:c.3928G>T
  • NM_001407941.1:c.3928G>T
  • NM_001407942.1:c.3913G>T
  • NM_001407943.1:c.3910G>T
  • NM_001407944.1:c.3913G>T
  • NM_001407945.1:c.3913G>T
  • NM_001407946.1:c.3721G>T
  • NM_001407947.1:c.3721G>T
  • NM_001407948.1:c.3721G>T
  • NM_001407949.1:c.3721G>T
  • NM_001407950.1:c.3721G>T
  • NM_001407951.1:c.3721G>T
  • NM_001407952.1:c.3721G>T
  • NM_001407953.1:c.3721G>T
  • NM_001407954.1:c.3718G>T
  • NM_001407955.1:c.3718G>T
  • NM_001407956.1:c.3718G>T
  • NM_001407957.1:c.3721G>T
  • NM_001407958.1:c.3718G>T
  • NM_001407959.1:c.3673G>T
  • NM_001407960.1:c.3673G>T
  • NM_001407962.1:c.3670G>T
  • NM_001407963.1:c.3673G>T
  • NM_001407964.1:c.3910G>T
  • NM_001407965.1:c.3550G>T
  • NM_001407966.1:c.3166G>T
  • NM_001407967.1:c.3166G>T
  • NM_001407968.1:c.1450G>T
  • NM_001407969.1:c.1450G>T
  • NM_001407970.1:c.788-445G>T
  • NM_001407971.1:c.788-445G>T
  • NM_001407972.1:c.785-445G>T
  • NM_001407973.1:c.788-445G>T
  • NM_001407974.1:c.788-445G>T
  • NM_001407975.1:c.788-445G>T
  • NM_001407976.1:c.788-445G>T
  • NM_001407977.1:c.788-445G>T
  • NM_001407978.1:c.788-445G>T
  • NM_001407979.1:c.788-445G>T
  • NM_001407980.1:c.788-445G>T
  • NM_001407981.1:c.788-445G>T
  • NM_001407982.1:c.788-445G>T
  • NM_001407983.1:c.788-445G>T
  • NM_001407984.1:c.785-445G>T
  • NM_001407985.1:c.785-445G>T
  • NM_001407986.1:c.785-445G>T
  • NM_001407990.1:c.788-445G>T
  • NM_001407991.1:c.785-445G>T
  • NM_001407992.1:c.785-445G>T
  • NM_001407993.1:c.788-445G>T
  • NM_001408392.1:c.785-445G>T
  • NM_001408396.1:c.785-445G>T
  • NM_001408397.1:c.785-445G>T
  • NM_001408398.1:c.785-445G>T
  • NM_001408399.1:c.785-445G>T
  • NM_001408400.1:c.785-445G>T
  • NM_001408401.1:c.785-445G>T
  • NM_001408402.1:c.785-445G>T
  • NM_001408403.1:c.788-445G>T
  • NM_001408404.1:c.788-445G>T
  • NM_001408406.1:c.791-454G>T
  • NM_001408407.1:c.785-445G>T
  • NM_001408408.1:c.779-445G>T
  • NM_001408409.1:c.710-445G>T
  • NM_001408410.1:c.647-445G>T
  • NM_001408411.1:c.710-445G>T
  • NM_001408412.1:c.710-445G>T
  • NM_001408413.1:c.707-445G>T
  • NM_001408414.1:c.710-445G>T
  • NM_001408415.1:c.710-445G>T
  • NM_001408416.1:c.707-445G>T
  • NM_001408418.1:c.671-445G>T
  • NM_001408419.1:c.671-445G>T
  • NM_001408420.1:c.671-445G>T
  • NM_001408421.1:c.668-445G>T
  • NM_001408422.1:c.671-445G>T
  • NM_001408423.1:c.671-445G>T
  • NM_001408424.1:c.668-445G>T
  • NM_001408425.1:c.665-445G>T
  • NM_001408426.1:c.665-445G>T
  • NM_001408427.1:c.665-445G>T
  • NM_001408428.1:c.665-445G>T
  • NM_001408429.1:c.665-445G>T
  • NM_001408430.1:c.665-445G>T
  • NM_001408431.1:c.668-445G>T
  • NM_001408432.1:c.662-445G>T
  • NM_001408433.1:c.662-445G>T
  • NM_001408434.1:c.662-445G>T
  • NM_001408435.1:c.662-445G>T
  • NM_001408436.1:c.665-445G>T
  • NM_001408437.1:c.665-445G>T
  • NM_001408438.1:c.665-445G>T
  • NM_001408439.1:c.665-445G>T
  • NM_001408440.1:c.665-445G>T
  • NM_001408441.1:c.665-445G>T
  • NM_001408442.1:c.665-445G>T
  • NM_001408443.1:c.665-445G>T
  • NM_001408444.1:c.665-445G>T
  • NM_001408445.1:c.662-445G>T
  • NM_001408446.1:c.662-445G>T
  • NM_001408447.1:c.662-445G>T
  • NM_001408448.1:c.662-445G>T
  • NM_001408450.1:c.662-445G>T
  • NM_001408451.1:c.653-445G>T
  • NM_001408452.1:c.647-445G>T
  • NM_001408453.1:c.647-445G>T
  • NM_001408454.1:c.647-445G>T
  • NM_001408455.1:c.647-445G>T
  • NM_001408456.1:c.647-445G>T
  • NM_001408457.1:c.647-445G>T
  • NM_001408458.1:c.647-445G>T
  • NM_001408459.1:c.647-445G>T
  • NM_001408460.1:c.647-445G>T
  • NM_001408461.1:c.647-445G>T
  • NM_001408462.1:c.644-445G>T
  • NM_001408463.1:c.644-445G>T
  • NM_001408464.1:c.644-445G>T
  • NM_001408465.1:c.644-445G>T
  • NM_001408466.1:c.647-445G>T
  • NM_001408467.1:c.647-445G>T
  • NM_001408468.1:c.644-445G>T
  • NM_001408469.1:c.647-445G>T
  • NM_001408470.1:c.644-445G>T
  • NM_001408472.1:c.788-445G>T
  • NM_001408473.1:c.785-445G>T
  • NM_001408474.1:c.587-445G>T
  • NM_001408475.1:c.584-445G>T
  • NM_001408476.1:c.587-445G>T
  • NM_001408478.1:c.578-445G>T
  • NM_001408479.1:c.578-445G>T
  • NM_001408480.1:c.578-445G>T
  • NM_001408481.1:c.578-445G>T
  • NM_001408482.1:c.578-445G>T
  • NM_001408483.1:c.578-445G>T
  • NM_001408484.1:c.578-445G>T
  • NM_001408485.1:c.578-445G>T
  • NM_001408489.1:c.578-445G>T
  • NM_001408490.1:c.575-445G>T
  • NM_001408491.1:c.575-445G>T
  • NM_001408492.1:c.578-445G>T
  • NM_001408493.1:c.575-445G>T
  • NM_001408494.1:c.548-445G>T
  • NM_001408495.1:c.545-445G>T
  • NM_001408496.1:c.524-445G>T
  • NM_001408497.1:c.524-445G>T
  • NM_001408498.1:c.524-445G>T
  • NM_001408499.1:c.524-445G>T
  • NM_001408500.1:c.524-445G>T
  • NM_001408501.1:c.524-445G>T
  • NM_001408502.1:c.455-445G>T
  • NM_001408503.1:c.521-445G>T
  • NM_001408504.1:c.521-445G>T
  • NM_001408505.1:c.521-445G>T
  • NM_001408506.1:c.461-445G>T
  • NM_001408507.1:c.461-445G>T
  • NM_001408508.1:c.452-445G>T
  • NM_001408509.1:c.452-445G>T
  • NM_001408510.1:c.407-445G>T
  • NM_001408511.1:c.404-445G>T
  • NM_001408512.1:c.284-445G>T
  • NM_001408513.1:c.578-445G>T
  • NM_001408514.1:c.578-445G>T
  • NM_007294.4:c.4054G>TMANE SELECT
  • NM_007297.4:c.3913G>T
  • NM_007298.4:c.788-445G>T
  • NM_007299.4:c.788-445G>T
  • NM_007300.4:c.4054G>T
  • NP_001394500.1:p.Glu1281Ter
  • NP_001394510.1:p.Glu1352Ter
  • NP_001394511.1:p.Glu1352Ter
  • NP_001394512.1:p.Glu1352Ter
  • NP_001394514.1:p.Glu1352Ter
  • NP_001394516.1:p.Glu1351Ter
  • NP_001394519.1:p.Glu1351Ter
  • NP_001394520.1:p.Glu1351Ter
  • NP_001394522.1:p.Glu1352Ter
  • NP_001394523.1:p.Glu1352Ter
  • NP_001394525.1:p.Glu1352Ter
  • NP_001394526.1:p.Glu1352Ter
  • NP_001394527.1:p.Glu1352Ter
  • NP_001394531.1:p.Glu1352Ter
  • NP_001394532.1:p.Glu1352Ter
  • NP_001394534.1:p.Glu1352Ter
  • NP_001394539.1:p.Glu1351Ter
  • NP_001394540.1:p.Glu1351Ter
  • NP_001394541.1:p.Glu1351Ter
  • NP_001394542.1:p.Glu1351Ter
  • NP_001394543.1:p.Glu1351Ter
  • NP_001394544.1:p.Glu1351Ter
  • NP_001394545.1:p.Glu1352Ter
  • NP_001394546.1:p.Glu1352Ter
  • NP_001394547.1:p.Glu1352Ter
  • NP_001394548.1:p.Glu1352Ter
  • NP_001394549.1:p.Glu1352Ter
  • NP_001394550.1:p.Glu1352Ter
  • NP_001394551.1:p.Glu1352Ter
  • NP_001394552.1:p.Glu1352Ter
  • NP_001394553.1:p.Glu1352Ter
  • NP_001394554.1:p.Glu1352Ter
  • NP_001394555.1:p.Glu1352Ter
  • NP_001394556.1:p.Glu1351Ter
  • NP_001394557.1:p.Glu1351Ter
  • NP_001394558.1:p.Glu1351Ter
  • NP_001394559.1:p.Glu1351Ter
  • NP_001394560.1:p.Glu1351Ter
  • NP_001394561.1:p.Glu1351Ter
  • NP_001394562.1:p.Glu1351Ter
  • NP_001394563.1:p.Glu1351Ter
  • NP_001394564.1:p.Glu1351Ter
  • NP_001394565.1:p.Glu1351Ter
  • NP_001394566.1:p.Glu1351Ter
  • NP_001394567.1:p.Glu1351Ter
  • NP_001394568.1:p.Glu1352Ter
  • NP_001394569.1:p.Glu1352Ter
  • NP_001394570.1:p.Glu1352Ter
  • NP_001394571.1:p.Glu1352Ter
  • NP_001394573.1:p.Glu1351Ter
  • NP_001394574.1:p.Glu1351Ter
  • NP_001394575.1:p.Glu1349Ter
  • NP_001394576.1:p.Glu1349Ter
  • NP_001394577.1:p.Glu1311Ter
  • NP_001394578.1:p.Glu1310Ter
  • NP_001394581.1:p.Glu1352Ter
  • NP_001394582.1:p.Glu1326Ter
  • NP_001394583.1:p.Glu1326Ter
  • NP_001394584.1:p.Glu1326Ter
  • NP_001394585.1:p.Glu1326Ter
  • NP_001394586.1:p.Glu1326Ter
  • NP_001394587.1:p.Glu1326Ter
  • NP_001394588.1:p.Glu1325Ter
  • NP_001394589.1:p.Glu1325Ter
  • NP_001394590.1:p.Glu1325Ter
  • NP_001394591.1:p.Glu1325Ter
  • NP_001394592.1:p.Glu1326Ter
  • NP_001394593.1:p.Glu1311Ter
  • NP_001394594.1:p.Glu1311Ter
  • NP_001394595.1:p.Glu1311Ter
  • NP_001394596.1:p.Glu1311Ter
  • NP_001394597.1:p.Glu1311Ter
  • NP_001394598.1:p.Glu1311Ter
  • NP_001394599.1:p.Glu1310Ter
  • NP_001394600.1:p.Glu1310Ter
  • NP_001394601.1:p.Glu1310Ter
  • NP_001394602.1:p.Glu1310Ter
  • NP_001394603.1:p.Glu1311Ter
  • NP_001394604.1:p.Glu1311Ter
  • NP_001394605.1:p.Glu1311Ter
  • NP_001394606.1:p.Glu1311Ter
  • NP_001394607.1:p.Glu1311Ter
  • NP_001394608.1:p.Glu1311Ter
  • NP_001394609.1:p.Glu1311Ter
  • NP_001394610.1:p.Glu1311Ter
  • NP_001394611.1:p.Glu1311Ter
  • NP_001394612.1:p.Glu1311Ter
  • NP_001394613.1:p.Glu1352Ter
  • NP_001394614.1:p.Glu1310Ter
  • NP_001394615.1:p.Glu1310Ter
  • NP_001394616.1:p.Glu1310Ter
  • NP_001394617.1:p.Glu1310Ter
  • NP_001394618.1:p.Glu1310Ter
  • NP_001394619.1:p.Glu1310Ter
  • NP_001394620.1:p.Glu1310Ter
  • NP_001394621.1:p.Glu1305Ter
  • NP_001394623.1:p.Glu1305Ter
  • NP_001394624.1:p.Glu1305Ter
  • NP_001394625.1:p.Glu1305Ter
  • NP_001394626.1:p.Glu1305Ter
  • NP_001394627.1:p.Glu1305Ter
  • NP_001394653.1:p.Glu1305Ter
  • NP_001394654.1:p.Glu1305Ter
  • NP_001394655.1:p.Glu1305Ter
  • NP_001394656.1:p.Glu1305Ter
  • NP_001394657.1:p.Glu1305Ter
  • NP_001394658.1:p.Glu1305Ter
  • NP_001394659.1:p.Glu1305Ter
  • NP_001394660.1:p.Glu1305Ter
  • NP_001394661.1:p.Glu1305Ter
  • NP_001394662.1:p.Glu1305Ter
  • NP_001394663.1:p.Glu1305Ter
  • NP_001394664.1:p.Glu1305Ter
  • NP_001394665.1:p.Glu1305Ter
  • NP_001394666.1:p.Glu1305Ter
  • NP_001394667.1:p.Glu1305Ter
  • NP_001394668.1:p.Glu1305Ter
  • NP_001394669.1:p.Glu1304Ter
  • NP_001394670.1:p.Glu1304Ter
  • NP_001394671.1:p.Glu1304Ter
  • NP_001394672.1:p.Glu1304Ter
  • NP_001394673.1:p.Glu1304Ter
  • NP_001394674.1:p.Glu1304Ter
  • NP_001394675.1:p.Glu1304Ter
  • NP_001394676.1:p.Glu1304Ter
  • NP_001394677.1:p.Glu1304Ter
  • NP_001394678.1:p.Glu1304Ter
  • NP_001394679.1:p.Glu1305Ter
  • NP_001394680.1:p.Glu1305Ter
  • NP_001394681.1:p.Glu1305Ter
  • NP_001394767.1:p.Glu1304Ter
  • NP_001394768.1:p.Glu1304Ter
  • NP_001394770.1:p.Glu1304Ter
  • NP_001394771.1:p.Glu1304Ter
  • NP_001394772.1:p.Glu1304Ter
  • NP_001394773.1:p.Glu1304Ter
  • NP_001394774.1:p.Glu1304Ter
  • NP_001394775.1:p.Glu1304Ter
  • NP_001394776.1:p.Glu1304Ter
  • NP_001394777.1:p.Glu1304Ter
  • NP_001394778.1:p.Glu1304Ter
  • NP_001394779.1:p.Glu1305Ter
  • NP_001394780.1:p.Glu1305Ter
  • NP_001394781.1:p.Glu1305Ter
  • NP_001394782.1:p.Glu1281Ter
  • NP_001394783.1:p.Glu1352Ter
  • NP_001394787.1:p.Glu1352Ter
  • NP_001394788.1:p.Glu1352Ter
  • NP_001394789.1:p.Glu1351Ter
  • NP_001394790.1:p.Glu1351Ter
  • NP_001394791.1:p.Glu1285Ter
  • NP_001394792.1:p.Glu1311Ter
  • NP_001394803.1:p.Glu1284Ter
  • NP_001394804.1:p.Glu1284Ter
  • NP_001394808.1:p.Glu1282Ter
  • NP_001394810.1:p.Glu1282Ter
  • NP_001394811.1:p.Glu1282Ter
  • NP_001394813.1:p.Glu1282Ter
  • NP_001394814.1:p.Glu1282Ter
  • NP_001394815.1:p.Glu1282Ter
  • NP_001394816.1:p.Glu1282Ter
  • NP_001394818.1:p.Glu1282Ter
  • NP_001394823.1:p.Glu1281Ter
  • NP_001394824.1:p.Glu1281Ter
  • NP_001394825.1:p.Glu1281Ter
  • NP_001394826.1:p.Glu1281Ter
  • NP_001394827.1:p.Glu1281Ter
  • NP_001394828.1:p.Glu1281Ter
  • NP_001394829.1:p.Glu1282Ter
  • NP_001394831.1:p.Glu1282Ter
  • NP_001394833.1:p.Glu1282Ter
  • NP_001394835.1:p.Glu1282Ter
  • NP_001394836.1:p.Glu1282Ter
  • NP_001394837.1:p.Glu1282Ter
  • NP_001394838.1:p.Glu1282Ter
  • NP_001394839.1:p.Glu1282Ter
  • NP_001394844.1:p.Glu1281Ter
  • NP_001394845.1:p.Glu1281Ter
  • NP_001394846.1:p.Glu1281Ter
  • NP_001394847.1:p.Glu1281Ter
  • NP_001394848.1:p.Glu1311Ter
  • NP_001394849.1:p.Glu1264Ter
  • NP_001394850.1:p.Glu1264Ter
  • NP_001394851.1:p.Glu1264Ter
  • NP_001394852.1:p.Glu1264Ter
  • NP_001394853.1:p.Glu1264Ter
  • NP_001394854.1:p.Glu1264Ter
  • NP_001394855.1:p.Glu1264Ter
  • NP_001394856.1:p.Glu1264Ter
  • NP_001394857.1:p.Glu1264Ter
  • NP_001394858.1:p.Glu1264Ter
  • NP_001394859.1:p.Glu1263Ter
  • NP_001394860.1:p.Glu1263Ter
  • NP_001394861.1:p.Glu1263Ter
  • NP_001394862.1:p.Glu1264Ter
  • NP_001394863.1:p.Glu1263Ter
  • NP_001394864.1:p.Glu1264Ter
  • NP_001394865.1:p.Glu1263Ter
  • NP_001394866.1:p.Glu1311Ter
  • NP_001394867.1:p.Glu1311Ter
  • NP_001394868.1:p.Glu1311Ter
  • NP_001394869.1:p.Glu1310Ter
  • NP_001394870.1:p.Glu1310Ter
  • NP_001394871.1:p.Glu1305Ter
  • NP_001394872.1:p.Glu1304Ter
  • NP_001394873.1:p.Glu1305Ter
  • NP_001394874.1:p.Glu1305Ter
  • NP_001394875.1:p.Glu1241Ter
  • NP_001394876.1:p.Glu1241Ter
  • NP_001394877.1:p.Glu1241Ter
  • NP_001394878.1:p.Glu1241Ter
  • NP_001394879.1:p.Glu1241Ter
  • NP_001394880.1:p.Glu1241Ter
  • NP_001394881.1:p.Glu1241Ter
  • NP_001394882.1:p.Glu1241Ter
  • NP_001394883.1:p.Glu1240Ter
  • NP_001394884.1:p.Glu1240Ter
  • NP_001394885.1:p.Glu1240Ter
  • NP_001394886.1:p.Glu1241Ter
  • NP_001394887.1:p.Glu1240Ter
  • NP_001394888.1:p.Glu1225Ter
  • NP_001394889.1:p.Glu1225Ter
  • NP_001394891.1:p.Glu1224Ter
  • NP_001394892.1:p.Glu1225Ter
  • NP_001394893.1:p.Glu1304Ter
  • NP_001394894.1:p.Glu1184Ter
  • NP_001394895.1:p.Glu1056Ter
  • NP_001394896.1:p.Glu1056Ter
  • NP_001394897.1:p.Glu484Ter
  • NP_001394898.1:p.Glu484Ter
  • NP_009225.1:p.Glu1352Ter
  • NP_009225.1:p.Glu1352Ter
  • NP_009228.2:p.Glu1305Ter
  • NP_009231.2:p.Glu1352Ter
  • LRG_292t1:c.4054G>T
  • LRG_292:g.126507G>T
  • LRG_292p1:p.Glu1352Ter
  • NC_000017.10:g.41243494C>A
  • NM_007294.3:c.4054G>T
  • NR_027676.1:n.4190G>T
Protein change:
E1056*
Links:
dbSNP: rs80357202
NCBI 1000 Genomes Browser:
rs80357202
Molecular consequence:
  • NM_001407970.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-454G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-445G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4045G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4045G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4051G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3844G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3790G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3931G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3718G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3718G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3718G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3721G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3718G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3673G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3673G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3670G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3673G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3910G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3550G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3166G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3166G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1450G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1450G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4054G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001183415Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 6, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001183415.4

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

Description

The p.E1352* pathogenic mutation (also known as c.4054G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4054. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39(5):593-620). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 15, 2024