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Gene entry

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3

Chromosome
9
Cytoband
9q22.32
Variants (rsID)
22

HSD17B3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q22.32). Its official name is “hydroxysteroid 17-beta dehydrogenase 3”. The reference table lists 22 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs2066474Benignsingle nucleotide variantTestosterone 17-beta-dehydrogenase deficiency
  • rs2066479Benignsingle nucleotide variantTestosterone 17-beta-dehydrogenase deficiency
  • rs119481079Likely pathogenicsingle nucleotide variantTestosterone 17-beta-dehydrogenase deficiency
  • rs119481077Pathogenicsingle nucleotide variantTestosterone 17-beta-dehydrogenase deficiency|Pseudohermaphroditism
  • rs119481078Pathogenicsingle nucleotide variantTestosterone 17-beta-dehydrogenase 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.