Variant: rs1409716731 

    present in Gene: LOC105376861;HMGCL
    present in Chromosome: 1
    Position on Chromosome: 23825389
    Alleles of this Variant: C/-

rs1409716731 in LOC105376861;HMGCL gene and HMG CoA lyase deficiency PMID 14518825 2003 Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.