All variants in the CLCN5 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - whole gene deletion - CLCN5_000000 - PubMed: Lloyd 1996 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Akuta 1997 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
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