Individual #00002399

Reference Zhang J1, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.(1996)
Ethnic origin -
Remarks -
Panel size 1
Diseases MC
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     
0000002399 ? ? CLCN1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
7 Unknown ./. g.143028358G>A Zhang J1, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.(1996) CLCN1_000019 - Y Yang CLCN1 9 NM_000083.2:c.1013G>A r.(?) p.(Arg338Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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