Variant: rs786205431 

    present in Gene: HMGCL;GALE
    present in Chromosome: 1
    Position on Chromosome: 23802526
    Alleles of this Variant: AA/-

rs786205431 in HMGCL;GALE gene and HMG CoA lyase deficiency PMID 9463337 1998 HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

PMID 15308132 2004 The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

PMID 19177531 2009 Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

PMID 17173698 2006 Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.