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NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353510.9

Allele description

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]
Observations:
3

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591492Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes3not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591492.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

The BRCA1 p.Glu1373X variant was identified in 5 of 2418 proband chromosomes (frequency: 0.002) from individuals or families with breast or ovarian cancer, and was not identified in 300 control chromosomes from healthy individuals (Al-Ansari 2013, Burcos 2013, Geisler 2002, Kadouri 2007, Risch 2001, Scheuer 2002). The variant was also previously identified by our laboratory in an individual with breast cancer. The variant was also identified in dbSNP (ID: rs80357259) “With pathogenic allele”, HGMD, the BIC database (9X with clinical importance), and UMD (1X as a causal variant). The variant was classified as a pathogenic variant by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports). The p.Glu1373X variant leads to a premature stop codon at position 1373, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jun 17, 2024