Gene entry
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase
- Chromosome
- 1
- Cytoband
- 1p36.11
- Variants (rsID)
- 6
HMGCL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.11). Its official name is “3-hydroxy-3-methylglutaryl-CoA lyase”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs121964997Pathogenicsingle nucleotide variantDeficiency of hydroxymethylglutaryl-CoA lyase|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- rs763494292Pathogenicsingle nucleotide variantDeficiency of hydroxymethylglutaryl-CoA lyase
- rs786205431PathogenicDeletionDeficiency of hydroxymethylglutaryl-CoA lyase
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.