Gene entry
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2
- Chromosome
- 1
- Cytoband
- 1p12
- Variants (rsID)
- 16
HMGCS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p12). Its official name is “3-hydroxy-3-methylglutaryl-CoA synthase 2”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs151328418Benignsingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs41302817Benignsingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs138739620Conflicting interpretationssingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs188523700Conflicting interpretationssingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs137852638Pathogenicsingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs142637231Pathogenicsingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- rs137852637Uncertain significancesingle nucleotide variant3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.