Gene entry
HMBS
hydroxymethylbilane synthase
- Chromosome
- 11
- Cytoband
- 11q23.3
- Variants (rsID)
- 10
HMBS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.3). Its official name is “hydroxymethylbilane synthase”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs118204101Pathogenicsingle nucleotide variantAcute intermittent porphyria
- rs118204109Pathogenicsingle nucleotide variantAcute intermittent porphyria
- rs118204120Pathogenicsingle nucleotide variantAcute intermittent porphyria
- rs201909197Uncertain significancesingle nucleotide variantAcute intermittent porphyria
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.
