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     
+/. 6 c.599T>G r.(?) p.(Leu200Arg) - pathogenic g.49846380T>G g.50081723T>G Leu200Arg (CTG>CGG) - CLCN5_000066 - PubMed: Lloyd 1996, OMIM:var0003 - rs151340622 Germline yes - AciI 0 - Johan den Dunnen
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