Individual #00002380

Reference Shalata A1, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.(2010)
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     
0000002380 ? ? CLCN1 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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Variant/VariO/protein     
7 Unknown ./. g.143018813G>T Shalata A1, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.(2010) CLCN1_000001 - Y Yang CLCN1 5 NM_000083.2:c.568G>T r.(?) p.(Gly190*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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