All variants in the VPS13B gene

Information The variants shown are described using the NM_017890.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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     
+/+ 37 c.5827C>T r.5827c>u p.Arg1943* - pathogenic g.100654570C>T g.99642342C>T c.5827C>T: p.Arg1943X - VPS13B_000074 2 Finnish COH1 patients (1 hom, 1 com-het) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
Legend   How to query