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NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 6, 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:
RCV000074589.19

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000108674GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 6, 2023) 		germlineclinical testing

Citation Link,

SCV001133576Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 23, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Kwong A, Shin VY, Ho JC, Kang E, Nakamura S, Teo SH, Lee AS, Sng JH, Ginsburg OM, Kurian AW, Weitzel JN, Siu MT, Law FB, Chan TL, Narod SA, Ford JM, Ma ES, Kim SW.

J Med Genet. 2016 Jan;53(1):15-23. doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17. Review.

PubMed [citation]
PMID:
26187060
PMCID:
PMC4681590

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
See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000108674.13

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Nedelcu et al., 2002; Kadouri et al., 2007; Veschi et al., 2007; Grant et al., 2015; Lolas Hamameh et al., 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 4236G>T; This variant is associated with the following publications: (PMID: 11179017, 23958087, 26219728, 34290354, 31336956, 32438681, 28888541, 25479140, 25722380, 17591842, 26306726, 17233897, 11938448, 25525159, 26187060, 28152038, 27928164, 29907814, 28486781, 11773283, 23996866, 12655515, 11870168, 30606148, 29484706, 29446198, 32733560, 31589614)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133576.3

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

Description

The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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

Last Updated: Sep 16, 2024