All variants in the CLCN5 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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 c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+?/. 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Zhu 2010 - - Unknown - - - 0 - Rosa Vargas-Poussou
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