Individual #00000930

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     
0000000930 ? ? ERCC6 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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10 Unknown ./. g.50678722G>C Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000026 - Y Yang ERCC6 18 NM_000124.3:c.3284C>G r.(?) p.(Pro1095Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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