Individual #00000914

Reference Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
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     
0000000914 ? ? ERCC6 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
10 Unknown ./. g.50682120A>G Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000018 - Y Yang ERCC6 13 NM_000124.3:c.2551T>C r.(?) p.(Trp851Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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