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     
+?/+? 40 c.6578T>G r.(6578u>g) p.(Leu2193Arg) - likely pathogenic g.100729447T>G g.99717219T>G c.6578T>G: L2193R (exon 37) - VPS13B_000079 1 Finnish COH1 patient (com-het) PubMed: Kolehmainen et al. 2003 - rs120074149 SUMMARY record yes - - - - Anne Polvi
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