Individual #00005646

Reference Tincheva S et al. (2016)
Ethnic origin Bulgaria
Remarks -
Panel size 1
Diseases MC
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005660 ? ? CLCN1 1 XY Liu



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
7 Unknown ./. g.143048771C>T Tincheva S et al. (2016) CLCN1_000013 - XY Liu CLCN1 23 NM_000083.2:c.2680C>T r.(?) p.(Arg894*) - -
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