Gene entry
HIBCH
3-hydroxyisobutyryl-CoA hydrolase
- Chromosome
- 2
- Cytoband
- 2q32.2
- Variants (rsID)
- 12
HIBCH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q32.2). Its official name is “3-hydroxyisobutyryl-CoA hydrolase”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1058180Benignsingle nucleotide variantBeta-hydroxyisobutyryl-CoA deacylase deficiency
- rs291466Benignsingle nucleotide variantBeta-hydroxyisobutyryl-CoA deacylase deficiency
- rs121918329Conflicting interpretationssingle nucleotide variantBeta-hydroxyisobutyryl-CoA deacylase deficiency|Inborn genetic diseases
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.