All variants in the CLCN5 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 3 c.170G>T r.(?) p.(Gly57Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val (GGC>GTC) - CLCN5_000076 - PubMed: Lloyd 1997 - - Germline yes - MspI 0 - Johan den Dunnen
+/. 3 c.170G>T r.(?) p.(Gly57Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val - CLCN5_000076 - PubMed: Schurman 1998, OMIM:var0011 - rs151340629 Germline yes - - 0 - Johan den Dunnen
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