Genetics University — Research, Education, Medical Genetics
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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.