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NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 23, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000162872.19

Allele description [Variation Report for NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)]

NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)

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.4117G>T (p.Glu1373Ter)
Other names:
p.E1373*:GAG>TAG
HGVS:
  • NC_000017.11:g.43091012C>A
  • NG_005905.2:g.126972G>T
  • NM_001407571.1:c.3904G>T
  • NM_001407581.1:c.4117G>T
  • NM_001407582.1:c.4117G>T
  • NM_001407583.1:c.4117G>T
  • NM_001407585.1:c.4117G>T
  • NM_001407587.1:c.4114G>T
  • NM_001407590.1:c.4114G>T
  • NM_001407591.1:c.4114G>T
  • NM_001407593.1:c.4117G>T
  • NM_001407594.1:c.4117G>T
  • NM_001407596.1:c.4117G>T
  • NM_001407597.1:c.4117G>T
  • NM_001407598.1:c.4117G>T
  • NM_001407602.1:c.4117G>T
  • NM_001407603.1:c.4117G>T
  • NM_001407605.1:c.4117G>T
  • NM_001407610.1:c.4114G>T
  • NM_001407611.1:c.4114G>T
  • NM_001407612.1:c.4114G>T
  • NM_001407613.1:c.4114G>T
  • NM_001407614.1:c.4114G>T
  • NM_001407615.1:c.4114G>T
  • NM_001407616.1:c.4117G>T
  • NM_001407617.1:c.4117G>T
  • NM_001407618.1:c.4117G>T
  • NM_001407619.1:c.4117G>T
  • NM_001407620.1:c.4117G>T
  • NM_001407621.1:c.4117G>T
  • NM_001407622.1:c.4117G>T
  • NM_001407623.1:c.4117G>T
  • NM_001407624.1:c.4117G>T
  • NM_001407625.1:c.4117G>T
  • NM_001407626.1:c.4117G>T
  • NM_001407627.1:c.4114G>T
  • NM_001407628.1:c.4114G>T
  • NM_001407629.1:c.4114G>T
  • NM_001407630.1:c.4114G>T
  • NM_001407631.1:c.4114G>T
  • NM_001407632.1:c.4114G>T
  • NM_001407633.1:c.4114G>T
  • NM_001407634.1:c.4114G>T
  • NM_001407635.1:c.4114G>T
  • NM_001407636.1:c.4114G>T
  • NM_001407637.1:c.4114G>T
  • NM_001407638.1:c.4114G>T
  • NM_001407639.1:c.4117G>T
  • NM_001407640.1:c.4117G>T
  • NM_001407641.1:c.4117G>T
  • NM_001407642.1:c.4117G>T
  • NM_001407644.1:c.4114G>T
  • NM_001407645.1:c.4114G>T
  • NM_001407646.1:c.4108G>T
  • NM_001407647.1:c.4108G>T
  • NM_001407648.1:c.3994G>T
  • NM_001407649.1:c.3991G>T
  • NM_001407652.1:c.4117G>T
  • NM_001407653.1:c.4039G>T
  • NM_001407654.1:c.4039G>T
  • NM_001407655.1:c.4039G>T
  • NM_001407656.1:c.4039G>T
  • NM_001407657.1:c.4039G>T
  • NM_001407658.1:c.4039G>T
  • NM_001407659.1:c.4036G>T
  • NM_001407660.1:c.4036G>T
  • NM_001407661.1:c.4036G>T
  • NM_001407662.1:c.4036G>T
  • NM_001407663.1:c.4039G>T
  • NM_001407664.1:c.3994G>T
  • NM_001407665.1:c.3994G>T
  • NM_001407666.1:c.3994G>T
  • NM_001407667.1:c.3994G>T
  • NM_001407668.1:c.3994G>T
  • NM_001407669.1:c.3994G>T
  • NM_001407670.1:c.3991G>T
  • NM_001407671.1:c.3991G>T
  • NM_001407672.1:c.3991G>T
  • NM_001407673.1:c.3991G>T
  • NM_001407674.1:c.3994G>T
  • NM_001407675.1:c.3994G>T
  • NM_001407676.1:c.3994G>T
  • NM_001407677.1:c.3994G>T
  • NM_001407678.1:c.3994G>T
  • NM_001407679.1:c.3994G>T
  • NM_001407680.1:c.3994G>T
  • NM_001407681.1:c.3994G>T
  • NM_001407682.1:c.3994G>T
  • NM_001407683.1:c.3994G>T
  • NM_001407684.1:c.4117G>T
  • NM_001407685.1:c.3991G>T
  • NM_001407686.1:c.3991G>T
  • NM_001407687.1:c.3991G>T
  • NM_001407688.1:c.3991G>T
  • NM_001407689.1:c.3991G>T
  • NM_001407690.1:c.3991G>T
  • NM_001407691.1:c.3991G>T
  • NM_001407692.1:c.3976G>T
  • NM_001407694.1:c.3976G>T
  • NM_001407695.1:c.3976G>T
  • NM_001407696.1:c.3976G>T
  • NM_001407697.1:c.3976G>T
  • NM_001407698.1:c.3976G>T
  • NM_001407724.1:c.3976G>T
  • NM_001407725.1:c.3976G>T
  • NM_001407726.1:c.3976G>T
  • NM_001407727.1:c.3976G>T
  • NM_001407728.1:c.3976G>T
  • NM_001407729.1:c.3976G>T
  • NM_001407730.1:c.3976G>T
  • NM_001407731.1:c.3976G>T
  • NM_001407732.1:c.3976G>T
  • NM_001407733.1:c.3976G>T
  • NM_001407734.1:c.3976G>T
  • NM_001407735.1:c.3976G>T
  • NM_001407736.1:c.3976G>T
  • NM_001407737.1:c.3976G>T
  • NM_001407738.1:c.3976G>T
  • NM_001407739.1:c.3976G>T
  • NM_001407740.1:c.3973G>T
  • NM_001407741.1:c.3973G>T
  • NM_001407742.1:c.3973G>T
  • NM_001407743.1:c.3973G>T
  • NM_001407744.1:c.3973G>T
  • NM_001407745.1:c.3973G>T
  • NM_001407746.1:c.3973G>T
  • NM_001407747.1:c.3973G>T
  • NM_001407748.1:c.3973G>T
  • NM_001407749.1:c.3973G>T
  • NM_001407750.1:c.3976G>T
  • NM_001407751.1:c.3976G>T
  • NM_001407752.1:c.3976G>T
  • NM_001407838.1:c.3973G>T
  • NM_001407839.1:c.3973G>T
  • NM_001407841.1:c.3973G>T
  • NM_001407842.1:c.3973G>T
  • NM_001407843.1:c.3973G>T
  • NM_001407844.1:c.3973G>T
  • NM_001407845.1:c.3973G>T
  • NM_001407846.1:c.3973G>T
  • NM_001407847.1:c.3973G>T
  • NM_001407848.1:c.3973G>T
  • NM_001407849.1:c.3973G>T
  • NM_001407850.1:c.3976G>T
  • NM_001407851.1:c.3976G>T
  • NM_001407852.1:c.3976G>T
  • NM_001407853.1:c.3904G>T
  • NM_001407854.1:c.4117G>T
  • NM_001407858.1:c.4117G>T
  • NM_001407859.1:c.4117G>T
  • NM_001407860.1:c.4114G>T
  • NM_001407861.1:c.4114G>T
  • NM_001407862.1:c.3916G>T
  • NM_001407863.1:c.3994G>T
  • NM_001407874.1:c.3913G>T
  • NM_001407875.1:c.3913G>T
  • NM_001407879.1:c.3907G>T
  • NM_001407881.1:c.3907G>T
  • NM_001407882.1:c.3907G>T
  • NM_001407884.1:c.3907G>T
  • NM_001407885.1:c.3907G>T
  • NM_001407886.1:c.3907G>T
  • NM_001407887.1:c.3907G>T
  • NM_001407889.1:c.3907G>T
  • NM_001407894.1:c.3904G>T
  • NM_001407895.1:c.3904G>T
  • NM_001407896.1:c.3904G>T
  • NM_001407897.1:c.3904G>T
  • NM_001407898.1:c.3904G>T
  • NM_001407899.1:c.3904G>T
  • NM_001407900.1:c.3907G>T
  • NM_001407902.1:c.3907G>T
  • NM_001407904.1:c.3907G>T
  • NM_001407906.1:c.3907G>T
  • NM_001407907.1:c.3907G>T
  • NM_001407908.1:c.3907G>T
  • NM_001407909.1:c.3907G>T
  • NM_001407910.1:c.3907G>T
  • NM_001407915.1:c.3904G>T
  • NM_001407916.1:c.3904G>T
  • NM_001407917.1:c.3904G>T
  • NM_001407918.1:c.3904G>T
  • NM_001407919.1:c.3994G>T
  • NM_001407920.1:c.3853G>T
  • NM_001407921.1:c.3853G>T
  • NM_001407922.1:c.3853G>T
  • NM_001407923.1:c.3853G>T
  • NM_001407924.1:c.3853G>T
  • NM_001407925.1:c.3853G>T
  • NM_001407926.1:c.3853G>T
  • NM_001407927.1:c.3853G>T
  • NM_001407928.1:c.3853G>T
  • NM_001407929.1:c.3853G>T
  • NM_001407930.1:c.3850G>T
  • NM_001407931.1:c.3850G>T
  • NM_001407932.1:c.3850G>T
  • NM_001407933.1:c.3853G>T
  • NM_001407934.1:c.3850G>T
  • NM_001407935.1:c.3853G>T
  • NM_001407936.1:c.3850G>T
  • NM_001407937.1:c.3994G>T
  • NM_001407938.1:c.3994G>T
  • NM_001407939.1:c.3994G>T
  • NM_001407940.1:c.3991G>T
  • NM_001407941.1:c.3991G>T
  • NM_001407942.1:c.3976G>T
  • NM_001407943.1:c.3973G>T
  • NM_001407944.1:c.3976G>T
  • NM_001407945.1:c.3976G>T
  • NM_001407946.1:c.3784G>T
  • NM_001407947.1:c.3784G>T
  • NM_001407948.1:c.3784G>T
  • NM_001407949.1:c.3784G>T
  • NM_001407950.1:c.3784G>T
  • NM_001407951.1:c.3784G>T
  • NM_001407952.1:c.3784G>T
  • NM_001407953.1:c.3784G>T
  • NM_001407954.1:c.3781G>T
  • NM_001407955.1:c.3781G>T
  • NM_001407956.1:c.3781G>T
  • NM_001407957.1:c.3784G>T
  • NM_001407958.1:c.3781G>T
  • NM_001407959.1:c.3736G>T
  • NM_001407960.1:c.3736G>T
  • NM_001407962.1:c.3733G>T
  • NM_001407963.1:c.3736G>T
  • NM_001407964.1:c.3973G>T
  • NM_001407965.1:c.3613G>T
  • NM_001407966.1:c.3229G>T
  • NM_001407967.1:c.3229G>T
  • NM_001407968.1:c.1513G>T
  • NM_001407969.1:c.1513G>T
  • NM_001407970.1:c.808G>T
  • NM_001407971.1:c.808G>T
  • NM_001407972.1:c.805G>T
  • NM_001407973.1:c.808G>T
  • NM_001407974.1:c.808G>T
  • NM_001407975.1:c.808G>T
  • NM_001407976.1:c.808G>T
  • NM_001407977.1:c.808G>T
  • NM_001407978.1:c.808G>T
  • NM_001407979.1:c.808G>T
  • NM_001407980.1:c.808G>T
  • NM_001407981.1:c.808G>T
  • NM_001407982.1:c.808G>T
  • NM_001407983.1:c.808G>T
  • NM_001407984.1:c.805G>T
  • NM_001407985.1:c.805G>T
  • NM_001407986.1:c.805G>T
  • NM_001407990.1:c.808G>T
  • NM_001407991.1:c.805G>T
  • NM_001407992.1:c.805G>T
  • NM_001407993.1:c.808G>T
  • NM_001408392.1:c.805G>T
  • NM_001408396.1:c.805G>T
  • NM_001408397.1:c.805G>T
  • NM_001408398.1:c.805G>T
  • NM_001408399.1:c.805G>T
  • NM_001408400.1:c.805G>T
  • NM_001408401.1:c.805G>T
  • NM_001408402.1:c.805G>T
  • NM_001408403.1:c.808G>T
  • NM_001408404.1:c.808G>T
  • NM_001408406.1:c.802G>T
  • NM_001408407.1:c.805G>T
  • NM_001408408.1:c.799G>T
  • NM_001408409.1:c.730G>T
  • NM_001408410.1:c.667G>T
  • NM_001408411.1:c.730G>T
  • NM_001408412.1:c.730G>T
  • NM_001408413.1:c.727G>T
  • NM_001408414.1:c.730G>T
  • NM_001408415.1:c.730G>T
  • NM_001408416.1:c.727G>T
  • NM_001408418.1:c.691G>T
  • NM_001408419.1:c.691G>T
  • NM_001408420.1:c.691G>T
  • NM_001408421.1:c.688G>T
  • NM_001408422.1:c.691G>T
  • NM_001408423.1:c.691G>T
  • NM_001408424.1:c.688G>T
  • NM_001408425.1:c.685G>T
  • NM_001408426.1:c.685G>T
  • NM_001408427.1:c.685G>T
  • NM_001408428.1:c.685G>T
  • NM_001408429.1:c.685G>T
  • NM_001408430.1:c.685G>T
  • NM_001408431.1:c.688G>T
  • NM_001408432.1:c.682G>T
  • NM_001408433.1:c.682G>T
  • NM_001408434.1:c.682G>T
  • NM_001408435.1:c.682G>T
  • NM_001408436.1:c.685G>T
  • NM_001408437.1:c.685G>T
  • NM_001408438.1:c.685G>T
  • NM_001408439.1:c.685G>T
  • NM_001408440.1:c.685G>T
  • NM_001408441.1:c.685G>T
  • NM_001408442.1:c.685G>T
  • NM_001408443.1:c.685G>T
  • NM_001408444.1:c.685G>T
  • NM_001408445.1:c.682G>T
  • NM_001408446.1:c.682G>T
  • NM_001408447.1:c.682G>T
  • NM_001408448.1:c.682G>T
  • NM_001408450.1:c.682G>T
  • NM_001408451.1:c.673G>T
  • NM_001408452.1:c.667G>T
  • NM_001408453.1:c.667G>T
  • NM_001408454.1:c.667G>T
  • NM_001408455.1:c.667G>T
  • NM_001408456.1:c.667G>T
  • NM_001408457.1:c.667G>T
  • NM_001408458.1:c.667G>T
  • NM_001408459.1:c.667G>T
  • NM_001408460.1:c.667G>T
  • NM_001408461.1:c.667G>T
  • NM_001408462.1:c.664G>T
  • NM_001408463.1:c.664G>T
  • NM_001408464.1:c.664G>T
  • NM_001408465.1:c.664G>T
  • NM_001408466.1:c.667G>T
  • NM_001408467.1:c.667G>T
  • NM_001408468.1:c.664G>T
  • NM_001408469.1:c.667G>T
  • NM_001408470.1:c.664G>T
  • NM_001408472.1:c.808G>T
  • NM_001408473.1:c.805G>T
  • NM_001408474.1:c.607G>T
  • NM_001408475.1:c.604G>T
  • NM_001408476.1:c.607G>T
  • NM_001408478.1:c.598G>T
  • NM_001408479.1:c.598G>T
  • NM_001408480.1:c.598G>T
  • NM_001408481.1:c.598G>T
  • NM_001408482.1:c.598G>T
  • NM_001408483.1:c.598G>T
  • NM_001408484.1:c.598G>T
  • NM_001408485.1:c.598G>T
  • NM_001408489.1:c.598G>T
  • NM_001408490.1:c.595G>T
  • NM_001408491.1:c.595G>T
  • NM_001408492.1:c.598G>T
  • NM_001408493.1:c.595G>T
  • NM_001408494.1:c.568G>T
  • NM_001408495.1:c.565G>T
  • NM_001408496.1:c.544G>T
  • NM_001408497.1:c.544G>T
  • NM_001408498.1:c.544G>T
  • NM_001408499.1:c.544G>T
  • NM_001408500.1:c.544G>T
  • NM_001408501.1:c.544G>T
  • NM_001408502.1:c.475G>T
  • NM_001408503.1:c.541G>T
  • NM_001408504.1:c.541G>T
  • NM_001408505.1:c.541G>T
  • NM_001408506.1:c.481G>T
  • NM_001408507.1:c.481G>T
  • NM_001408508.1:c.472G>T
  • NM_001408509.1:c.472G>T
  • NM_001408510.1:c.427G>T
  • NM_001408511.1:c.424G>T
  • NM_001408512.1:c.304G>T
  • NM_001408513.1:c.598G>T
  • NM_001408514.1:c.598G>T
  • NM_007294.4:c.4117G>TMANE SELECT
  • NM_007297.4:c.3976G>T
  • NM_007298.4:c.808G>T
  • NM_007299.4:c.808G>T
  • NM_007300.3:c.4117G>T
  • NM_007300.4:c.4117G>T
  • NM_007304.2:c.808G>T
  • NP_001394500.1:p.Glu1302Ter
  • NP_001394510.1:p.Glu1373Ter
  • NP_001394511.1:p.Glu1373Ter
  • NP_001394512.1:p.Glu1373Ter
  • NP_001394514.1:p.Glu1373Ter
  • NP_001394516.1:p.Glu1372Ter
  • NP_001394519.1:p.Glu1372Ter
  • NP_001394520.1:p.Glu1372Ter
  • NP_001394522.1:p.Glu1373Ter
  • NP_001394523.1:p.Glu1373Ter
  • NP_001394525.1:p.Glu1373Ter
  • NP_001394526.1:p.Glu1373Ter
  • NP_001394527.1:p.Glu1373Ter
  • NP_001394531.1:p.Glu1373Ter
  • NP_001394532.1:p.Glu1373Ter
  • NP_001394534.1:p.Glu1373Ter
  • NP_001394539.1:p.Glu1372Ter
  • NP_001394540.1:p.Glu1372Ter
  • NP_001394541.1:p.Glu1372Ter
  • NP_001394542.1:p.Glu1372Ter
  • NP_001394543.1:p.Glu1372Ter
  • NP_001394544.1:p.Glu1372Ter
  • NP_001394545.1:p.Glu1373Ter
  • NP_001394546.1:p.Glu1373Ter
  • NP_001394547.1:p.Glu1373Ter
  • NP_001394548.1:p.Glu1373Ter
  • NP_001394549.1:p.Glu1373Ter
  • NP_001394550.1:p.Glu1373Ter
  • NP_001394551.1:p.Glu1373Ter
  • NP_001394552.1:p.Glu1373Ter
  • NP_001394553.1:p.Glu1373Ter
  • NP_001394554.1:p.Glu1373Ter
  • NP_001394555.1:p.Glu1373Ter
  • NP_001394556.1:p.Glu1372Ter
  • NP_001394557.1:p.Glu1372Ter
  • NP_001394558.1:p.Glu1372Ter
  • NP_001394559.1:p.Glu1372Ter
  • NP_001394560.1:p.Glu1372Ter
  • NP_001394561.1:p.Glu1372Ter
  • NP_001394562.1:p.Glu1372Ter
  • NP_001394563.1:p.Glu1372Ter
  • NP_001394564.1:p.Glu1372Ter
  • NP_001394565.1:p.Glu1372Ter
  • NP_001394566.1:p.Glu1372Ter
  • NP_001394567.1:p.Glu1372Ter
  • NP_001394568.1:p.Glu1373Ter
  • NP_001394569.1:p.Glu1373Ter
  • NP_001394570.1:p.Glu1373Ter
  • NP_001394571.1:p.Glu1373Ter
  • NP_001394573.1:p.Glu1372Ter
  • NP_001394574.1:p.Glu1372Ter
  • NP_001394575.1:p.Glu1370Ter
  • NP_001394576.1:p.Glu1370Ter
  • NP_001394577.1:p.Glu1332Ter
  • NP_001394578.1:p.Glu1331Ter
  • NP_001394581.1:p.Glu1373Ter
  • NP_001394582.1:p.Glu1347Ter
  • NP_001394583.1:p.Glu1347Ter
  • NP_001394584.1:p.Glu1347Ter
  • NP_001394585.1:p.Glu1347Ter
  • NP_001394586.1:p.Glu1347Ter
  • NP_001394587.1:p.Glu1347Ter
  • NP_001394588.1:p.Glu1346Ter
  • NP_001394589.1:p.Glu1346Ter
  • NP_001394590.1:p.Glu1346Ter
  • NP_001394591.1:p.Glu1346Ter
  • NP_001394592.1:p.Glu1347Ter
  • NP_001394593.1:p.Glu1332Ter
  • NP_001394594.1:p.Glu1332Ter
  • NP_001394595.1:p.Glu1332Ter
  • NP_001394596.1:p.Glu1332Ter
  • NP_001394597.1:p.Glu1332Ter
  • NP_001394598.1:p.Glu1332Ter
  • NP_001394599.1:p.Glu1331Ter
  • NP_001394600.1:p.Glu1331Ter
  • NP_001394601.1:p.Glu1331Ter
  • NP_001394602.1:p.Glu1331Ter
  • NP_001394603.1:p.Glu1332Ter
  • NP_001394604.1:p.Glu1332Ter
  • NP_001394605.1:p.Glu1332Ter
  • NP_001394606.1:p.Glu1332Ter
  • NP_001394607.1:p.Glu1332Ter
  • NP_001394608.1:p.Glu1332Ter
  • NP_001394609.1:p.Glu1332Ter
  • NP_001394610.1:p.Glu1332Ter
  • NP_001394611.1:p.Glu1332Ter
  • NP_001394612.1:p.Glu1332Ter
  • NP_001394613.1:p.Glu1373Ter
  • NP_001394614.1:p.Glu1331Ter
  • NP_001394615.1:p.Glu1331Ter
  • NP_001394616.1:p.Glu1331Ter
  • NP_001394617.1:p.Glu1331Ter
  • NP_001394618.1:p.Glu1331Ter
  • NP_001394619.1:p.Glu1331Ter
  • NP_001394620.1:p.Glu1331Ter
  • NP_001394621.1:p.Glu1326Ter
  • NP_001394623.1:p.Glu1326Ter
  • NP_001394624.1:p.Glu1326Ter
  • NP_001394625.1:p.Glu1326Ter
  • NP_001394626.1:p.Glu1326Ter
  • NP_001394627.1:p.Glu1326Ter
  • NP_001394653.1:p.Glu1326Ter
  • NP_001394654.1:p.Glu1326Ter
  • NP_001394655.1:p.Glu1326Ter
  • NP_001394656.1:p.Glu1326Ter
  • NP_001394657.1:p.Glu1326Ter
  • NP_001394658.1:p.Glu1326Ter
  • NP_001394659.1:p.Glu1326Ter
  • NP_001394660.1:p.Glu1326Ter
  • NP_001394661.1:p.Glu1326Ter
  • NP_001394662.1:p.Glu1326Ter
  • NP_001394663.1:p.Glu1326Ter
  • NP_001394664.1:p.Glu1326Ter
  • NP_001394665.1:p.Glu1326Ter
  • NP_001394666.1:p.Glu1326Ter
  • NP_001394667.1:p.Glu1326Ter
  • NP_001394668.1:p.Glu1326Ter
  • NP_001394669.1:p.Glu1325Ter
  • NP_001394670.1:p.Glu1325Ter
  • NP_001394671.1:p.Glu1325Ter
  • NP_001394672.1:p.Glu1325Ter
  • NP_001394673.1:p.Glu1325Ter
  • NP_001394674.1:p.Glu1325Ter
  • NP_001394675.1:p.Glu1325Ter
  • NP_001394676.1:p.Glu1325Ter
  • NP_001394677.1:p.Glu1325Ter
  • NP_001394678.1:p.Glu1325Ter
  • NP_001394679.1:p.Glu1326Ter
  • NP_001394680.1:p.Glu1326Ter
  • NP_001394681.1:p.Glu1326Ter
  • NP_001394767.1:p.Glu1325Ter
  • NP_001394768.1:p.Glu1325Ter
  • NP_001394770.1:p.Glu1325Ter
  • NP_001394771.1:p.Glu1325Ter
  • NP_001394772.1:p.Glu1325Ter
  • NP_001394773.1:p.Glu1325Ter
  • NP_001394774.1:p.Glu1325Ter
  • NP_001394775.1:p.Glu1325Ter
  • NP_001394776.1:p.Glu1325Ter
  • NP_001394777.1:p.Glu1325Ter
  • NP_001394778.1:p.Glu1325Ter
  • NP_001394779.1:p.Glu1326Ter
  • NP_001394780.1:p.Glu1326Ter
  • NP_001394781.1:p.Glu1326Ter
  • NP_001394782.1:p.Glu1302Ter
  • NP_001394783.1:p.Glu1373Ter
  • NP_001394787.1:p.Glu1373Ter
  • NP_001394788.1:p.Glu1373Ter
  • NP_001394789.1:p.Glu1372Ter
  • NP_001394790.1:p.Glu1372Ter
  • NP_001394791.1:p.Glu1306Ter
  • NP_001394792.1:p.Glu1332Ter
  • NP_001394803.1:p.Glu1305Ter
  • NP_001394804.1:p.Glu1305Ter
  • NP_001394808.1:p.Glu1303Ter
  • NP_001394810.1:p.Glu1303Ter
  • NP_001394811.1:p.Glu1303Ter
  • NP_001394813.1:p.Glu1303Ter
  • NP_001394814.1:p.Glu1303Ter
  • NP_001394815.1:p.Glu1303Ter
  • NP_001394816.1:p.Glu1303Ter
  • NP_001394818.1:p.Glu1303Ter
  • NP_001394823.1:p.Glu1302Ter
  • NP_001394824.1:p.Glu1302Ter
  • NP_001394825.1:p.Glu1302Ter
  • NP_001394826.1:p.Glu1302Ter
  • NP_001394827.1:p.Glu1302Ter
  • NP_001394828.1:p.Glu1302Ter
  • NP_001394829.1:p.Glu1303Ter
  • NP_001394831.1:p.Glu1303Ter
  • NP_001394833.1:p.Glu1303Ter
  • NP_001394835.1:p.Glu1303Ter
  • NP_001394836.1:p.Glu1303Ter
  • NP_001394837.1:p.Glu1303Ter
  • NP_001394838.1:p.Glu1303Ter
  • NP_001394839.1:p.Glu1303Ter
  • NP_001394844.1:p.Glu1302Ter
  • NP_001394845.1:p.Glu1302Ter
  • NP_001394846.1:p.Glu1302Ter
  • NP_001394847.1:p.Glu1302Ter
  • NP_001394848.1:p.Glu1332Ter
  • NP_001394849.1:p.Glu1285Ter
  • NP_001394850.1:p.Glu1285Ter
  • NP_001394851.1:p.Glu1285Ter
  • NP_001394852.1:p.Glu1285Ter
  • NP_001394853.1:p.Glu1285Ter
  • NP_001394854.1:p.Glu1285Ter
  • NP_001394855.1:p.Glu1285Ter
  • NP_001394856.1:p.Glu1285Ter
  • NP_001394857.1:p.Glu1285Ter
  • NP_001394858.1:p.Glu1285Ter
  • NP_001394859.1:p.Glu1284Ter
  • NP_001394860.1:p.Glu1284Ter
  • NP_001394861.1:p.Glu1284Ter
  • NP_001394862.1:p.Glu1285Ter
  • NP_001394863.1:p.Glu1284Ter
  • NP_001394864.1:p.Glu1285Ter
  • NP_001394865.1:p.Glu1284Ter
  • NP_001394866.1:p.Glu1332Ter
  • NP_001394867.1:p.Glu1332Ter
  • NP_001394868.1:p.Glu1332Ter
  • NP_001394869.1:p.Glu1331Ter
  • NP_001394870.1:p.Glu1331Ter
  • NP_001394871.1:p.Glu1326Ter
  • NP_001394872.1:p.Glu1325Ter
  • NP_001394873.1:p.Glu1326Ter
  • NP_001394874.1:p.Glu1326Ter
  • NP_001394875.1:p.Glu1262Ter
  • NP_001394876.1:p.Glu1262Ter
  • NP_001394877.1:p.Glu1262Ter
  • NP_001394878.1:p.Glu1262Ter
  • NP_001394879.1:p.Glu1262Ter
  • NP_001394880.1:p.Glu1262Ter
  • NP_001394881.1:p.Glu1262Ter
  • NP_001394882.1:p.Glu1262Ter
  • NP_001394883.1:p.Glu1261Ter
  • NP_001394884.1:p.Glu1261Ter
  • NP_001394885.1:p.Glu1261Ter
  • NP_001394886.1:p.Glu1262Ter
  • NP_001394887.1:p.Glu1261Ter
  • NP_001394888.1:p.Glu1246Ter
  • NP_001394889.1:p.Glu1246Ter
  • NP_001394891.1:p.Glu1245Ter
  • NP_001394892.1:p.Glu1246Ter
  • NP_001394893.1:p.Glu1325Ter
  • NP_001394894.1:p.Glu1205Ter
  • NP_001394895.1:p.Glu1077Ter
  • NP_001394896.1:p.Glu1077Ter
  • NP_001394897.1:p.Glu505Ter
  • NP_001394898.1:p.Glu505Ter
  • NP_001394899.1:p.Glu270Ter
  • NP_001394900.1:p.Glu270Ter
  • NP_001394901.1:p.Glu269Ter
  • NP_001394902.1:p.Glu270Ter
  • NP_001394903.1:p.Glu270Ter
  • NP_001394904.1:p.Glu270Ter
  • NP_001394905.1:p.Glu270Ter
  • NP_001394906.1:p.Glu270Ter
  • NP_001394907.1:p.Glu270Ter
  • NP_001394908.1:p.Glu270Ter
  • NP_001394909.1:p.Glu270Ter
  • NP_001394910.1:p.Glu270Ter
  • NP_001394911.1:p.Glu270Ter
  • NP_001394912.1:p.Glu270Ter
  • NP_001394913.1:p.Glu269Ter
  • NP_001394914.1:p.Glu269Ter
  • NP_001394915.1:p.Glu269Ter
  • NP_001394919.1:p.Glu270Ter
  • NP_001394920.1:p.Glu269Ter
  • NP_001394921.1:p.Glu269Ter
  • NP_001394922.1:p.Glu270Ter
  • NP_001395321.1:p.Glu269Ter
  • NP_001395325.1:p.Glu269Ter
  • NP_001395326.1:p.Glu269Ter
  • NP_001395327.1:p.Glu269Ter
  • NP_001395328.1:p.Glu269Ter
  • NP_001395329.1:p.Glu269Ter
  • NP_001395330.1:p.Glu269Ter
  • NP_001395331.1:p.Glu269Ter
  • NP_001395332.1:p.Glu270Ter
  • NP_001395333.1:p.Glu270Ter
  • NP_001395335.1:p.Glu268Ter
  • NP_001395336.1:p.Glu269Ter
  • NP_001395337.1:p.Glu267Ter
  • NP_001395338.1:p.Glu244Ter
  • NP_001395339.1:p.Glu223Ter
  • NP_001395340.1:p.Glu244Ter
  • NP_001395341.1:p.Glu244Ter
  • NP_001395342.1:p.Glu243Ter
  • NP_001395343.1:p.Glu244Ter
  • NP_001395344.1:p.Glu244Ter
  • NP_001395345.1:p.Glu243Ter
  • NP_001395347.1:p.Glu231Ter
  • NP_001395348.1:p.Glu231Ter
  • NP_001395349.1:p.Glu231Ter
  • NP_001395350.1:p.Glu230Ter
  • NP_001395351.1:p.Glu231Ter
  • NP_001395352.1:p.Glu231Ter
  • NP_001395353.1:p.Glu230Ter
  • NP_001395354.1:p.Glu229Ter
  • NP_001395355.1:p.Glu229Ter
  • NP_001395356.1:p.Glu229Ter
  • NP_001395357.1:p.Glu229Ter
  • NP_001395358.1:p.Glu229Ter
  • NP_001395359.1:p.Glu229Ter
  • NP_001395360.1:p.Glu230Ter
  • NP_001395361.1:p.Glu228Ter
  • NP_001395362.1:p.Glu228Ter
  • NP_001395363.1:p.Glu228Ter
  • NP_001395364.1:p.Glu228Ter
  • NP_001395365.1:p.Glu229Ter
  • NP_001395366.1:p.Glu229Ter
  • NP_001395367.1:p.Glu229Ter
  • NP_001395368.1:p.Glu229Ter
  • NP_001395369.1:p.Glu229Ter
  • NP_001395370.1:p.Glu229Ter
  • NP_001395371.1:p.Glu229Ter
  • NP_001395372.1:p.Glu229Ter
  • NP_001395373.1:p.Glu229Ter
  • NP_001395374.1:p.Glu228Ter
  • NP_001395375.1:p.Glu228Ter
  • NP_001395376.1:p.Glu228Ter
  • NP_001395377.1:p.Glu228Ter
  • NP_001395379.1:p.Glu228Ter
  • NP_001395380.1:p.Glu225Ter
  • NP_001395381.1:p.Glu223Ter
  • NP_001395382.1:p.Glu223Ter
  • NP_001395383.1:p.Glu223Ter
  • NP_001395384.1:p.Glu223Ter
  • NP_001395385.1:p.Glu223Ter
  • NP_001395386.1:p.Glu223Ter
  • NP_001395387.1:p.Glu223Ter
  • NP_001395388.1:p.Glu223Ter
  • NP_001395389.1:p.Glu223Ter
  • NP_001395390.1:p.Glu223Ter
  • NP_001395391.1:p.Glu222Ter
  • NP_001395392.1:p.Glu222Ter
  • NP_001395393.1:p.Glu222Ter
  • NP_001395394.1:p.Glu222Ter
  • NP_001395395.1:p.Glu223Ter
  • NP_001395396.1:p.Glu223Ter
  • NP_001395397.1:p.Glu222Ter
  • NP_001395398.1:p.Glu223Ter
  • NP_001395399.1:p.Glu222Ter
  • NP_001395401.1:p.Glu270Ter
  • NP_001395402.1:p.Glu269Ter
  • NP_001395403.1:p.Glu203Ter
  • NP_001395404.1:p.Glu202Ter
  • NP_001395405.1:p.Glu203Ter
  • NP_001395407.1:p.Glu200Ter
  • NP_001395408.1:p.Glu200Ter
  • NP_001395409.1:p.Glu200Ter
  • NP_001395410.1:p.Glu200Ter
  • NP_001395411.1:p.Glu200Ter
  • NP_001395412.1:p.Glu200Ter
  • NP_001395413.1:p.Glu200Ter
  • NP_001395414.1:p.Glu200Ter
  • NP_001395418.1:p.Glu200Ter
  • NP_001395419.1:p.Glu199Ter
  • NP_001395420.1:p.Glu199Ter
  • NP_001395421.1:p.Glu200Ter
  • NP_001395422.1:p.Glu199Ter
  • NP_001395423.1:p.Glu190Ter
  • NP_001395424.1:p.Glu189Ter
  • NP_001395425.1:p.Glu182Ter
  • NP_001395426.1:p.Glu182Ter
  • NP_001395427.1:p.Glu182Ter
  • NP_001395428.1:p.Glu182Ter
  • NP_001395429.1:p.Glu182Ter
  • NP_001395430.1:p.Glu182Ter
  • NP_001395431.1:p.Glu159Ter
  • NP_001395432.1:p.Glu181Ter
  • NP_001395433.1:p.Glu181Ter
  • NP_001395434.1:p.Glu181Ter
  • NP_001395435.1:p.Glu161Ter
  • NP_001395436.1:p.Glu161Ter
  • NP_001395437.1:p.Glu158Ter
  • NP_001395438.1:p.Glu158Ter
  • NP_001395439.1:p.Glu143Ter
  • NP_001395440.1:p.Glu142Ter
  • NP_001395441.1:p.Glu102Ter
  • NP_001395442.1:p.Glu200Ter
  • NP_001395443.1:p.Glu200Ter
  • NP_009225.1:p.Glu1373Ter
  • NP_009225.1:p.Glu1373Ter
  • NP_009228.2:p.Glu1326Ter
  • NP_009229.2:p.Glu270Ter
  • NP_009229.2:p.Glu270Ter
  • NP_009230.2:p.Glu270Ter
  • NP_009231.2:p.Glu1373Ter
  • NP_009235.2:p.Glu270Ter
  • LRG_292t1:c.4117G>T
  • LRG_292:g.126972G>T
  • LRG_292p1:p.Glu1373Ter
  • NC_000017.10:g.41243029C>A
  • NM_007294.3:c.4117G>T
  • NM_007294.4:c.4117G>T
  • NM_007298.3:c.808G>T
  • NR_027676.2:n.4294G>T
  • U14680.1:n.4236G>T
  • p.E1373*
  • p.Glu1373*
Nucleotide change:
4236G>T
Protein change:
E102*
Links:
dbSNP: rs80357259
NCBI 1000 Genomes Browser:
rs80357259
Molecular consequence:
  • NR_027676.2:n.4294G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3613G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.799G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.673G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.604G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.568G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.565G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.475G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.427G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.424G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.808G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000213359Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 26, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000537657Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 23, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

PubMed [citation]
PMID:
28486781
PMCID:
PMC5526459

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA.

Am J Hum Genet. 2001 Mar;68(3):700-10. Epub 2001 Feb 15.

PubMed [citation]
PMID:
11179017
PMCID:
PMC1274482
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000213359.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.E1373* pathogenic mutation (also known as c.4117G>T) located in coding exon 10 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4117. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. This alteration has been identified in several individuals with hereditary breast and/or ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar; 68(3):700-10. Kadouri L et al. BMC Cancer 2007; 7:14. Geisler JP et al. J. Natl. Cancer Inst. 2002 Jan; 94(1):61-7; Lolas Hamameh S et al. Int. J. Cancer. 2017 Aug;141(4):750-756; Palmero E et al. Sci Rep 2018 Jun;8(1):9188). In addition to the clinical data presented in the literature, 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

From Color Diagnostics, LLC DBA Color Health, SCV000537657.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant changes 1 nucleotide in exon 11 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over two dozen individuals affected with breast and/or ovarian cancer (PMID: 11179017, 11773283, 17233897, 17591842, 30128899, 32438681), and this variant was also found to segregate with breast, ovarian or pancreatic cancer in one family (PMID: 17233897). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 13, 2024