All variants in the CLCN5 gene

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
?/. 8 c.1039C>T r.(?) p.(Arg347*) - VUS g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Akuta 1997 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Besbas 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Hoopes 2004 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Ludwig 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Morimoto 1998 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Tosetto 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.1039C>T r.(?) p.(Arg347*) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 - PubMed: Wu 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. - c.1039C>T r.(?) p.(Arg347Ter) - pathogenic g.49851219C>T g.50086562C>T - - CLCN5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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