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.796C>G r.796C>G p.(Leu266Ala) ACMG likely pathogenic g.49850709C>G - - - CLCN5_000148 - PubMed: Sekine 2014 - - Germline - - - 0 - Rosa Vargas-Poussou
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