All variants in the CLCN5 gene

Information The variants shown are described using the NM_000084.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 7 c.799G>A r.799G>A p.(Glu267Lys) ACMG likely pathogenic g.49850712G>A - - - CLCN5_000149 - PubMed: Ashton 2018 - - Germline/De novo (untested) - - - 0 - Rosa Vargas-Poussou
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