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     
+/. 4i_6i c.(393+1_394-1)_(723+1_724-1)del r.394_723del p.Gly132_Glu241del - pathogenic g.(49840638_49845250)_(49846505_49850636)del - 2 kb deletion exons 5-6 - CLCN5_000071 - PubMed: Lloyd 1996 - - Germline yes - - 0 - Johan den Dunnen
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