Variant: rs1212444447

present in Gene: HMGCL;LOC105376861 present in Chromosome: 1 Position on Chromosome: 23825385 Alleles of this Variant: G/A

rs1212444447 in HMGCL;LOC105376861 gene and HMG CoA lyase deficiency PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.