Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764264834
rs764264834
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		G 0.700 CausalMutation CLINVAR Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. 23465862

2013