Gene entry
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
- Chromosome
- 1
- Cytoband
- 1p12
- Variants (rsID)
- 4
HSD3B2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p12). Its official name is “hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs80358220Pathogenicsingle nucleotide variant3 beta-Hydroxysteroid dehydrogenase deficiency|Congenital adrenal hyperplasia
- rs80358221Pathogenicsingle nucleotide variant3 beta-Hydroxysteroid dehydrogenase deficiency|Congenital adrenal hyperplasia
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.