All variants in the VPS13B gene

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

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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     
+/+ 25 c.3348_3349delCT r.(3348_3349delcu) p.(Cys1117Phefs*8) - pathogenic g.100454766_100454767del g.99442538_99442539del c.3348_3349delCT: C1117F…I1124X (exon 23) - VPS13B_000043 Finnish Major COH1 mutation: 26 Finnish COH1 patients (15 hom and 11 com-het) PubMed: Kolehmainen et al. 2003, PubMed: Kolehmainen et al. 2004 - rs180177327 SUMMARY record yes - - - - Anne Polvi
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