Individual #00000977

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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Owner     
0000000977 ? ? 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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13 Unknown ./. g.103518037del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000019 - Y Yang ERCC5 9 NM_000123.3:c.1975del r.(?) p.(Ser659Valfs*2) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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