All variants in the CLCN5 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/. 2 c.87_88insAAC r.(?) p.(Asp29_Arg30insHis) - pathogenic g.49834667_49834668insAAC g.50070012_50070013insAAC AAC in frame 30:H - CLCN5_000075 - PubMed: Lloyd 1997 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query