All variants in the CLCN5 gene

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

9 entries on 1 page. Showing entries 1 - 9.
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     
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Hoopes 2004 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Ludwig 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Dinour 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Li 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Ludwig 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Ramos-Trujillo 2007 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Tosetto 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Zhu 2010 - - Unknown - - - 0 - Rosa Vargas-Poussou
Legend   How to query