All variants in the CLCN5 gene

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

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - De novo - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T Ser244Leu (TCG>TTG) - CLCN5_000005 - PubMed: Lloyd 1996, OMIM:var0007 - rs151340626 Germline yes - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Oudet 1997, OMIM:var0007 - rs151340626 Germline yes - - 0 - Johan den Dunnen
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Anglani 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Hoopes 1998 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Hoopes 2004 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Kelleher 1998 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Ludwig 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Oudet 1997 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Tosetto 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. - c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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