Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs890995574
rs890995574
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		A 0.700 GeneticVariation CLINVAR 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 11461194

2001