Individual #00000960

Reference Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014)
Ethnic origin -
Remarks -
Panel size 1
Diseases CS
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000960 ? ? ERCC5 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/protein     
13 Unknown ./. g.103498662C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000003 - Y Yang ERCC5 1 NM_000123.3:c.46C>T r.(?) p.(Gln16*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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