Variant: rs137852636 

    present in Gene: HMGCS2
    present in Chromosome: 1
    Position on Chromosome: 119764211
    Alleles of this Variant: A/G

rs137852636 in HMGCS2 gene and 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency PMID 11479731 2001 Genetic basis of mitochondrial HMG-CoA synthase deficiency.

PMID 11228257 2001 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

PMID 12647205 2003 Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.