All variants in the CLCN5 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 8 c.837G>A r.(?) p.(Trp279*) - pathogenic g.49851017G>A g.50086360G>A - - CLCN5_000098 - - - - Germline yes - - 0 - Johan den Dunnen
+/. 8 c.837G>A r.(?) p.(Trp279*) - pathogenic g.49851017G>A g.50086360G>A Trp279X (TGG>TGA) - CLCN5_000098 - PubMed: Lloyd 1996, OMIM:var0001 - rs151340620 Germline yes - MaeIII 0 - Johan den Dunnen
+/. 8 c.837G>A r.(?) p.(Trp279*) - pathogenic g.49851017G>A g.50086360G>A W279X (TGG>TGA) - CLCN5_000098 - PubMed: Lloyd 1997, OMIM:var0001 - rs151340620 Germline yes - MaeIII 0 - Johan den Dunnen
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