NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) AND 3 beta-Hydroxysteroid dehydrogenase deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jul 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001825818.2
Allele description [Variation Report for NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)]
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
Condition(s)
- Name:
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Synonyms:
- Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008727; MeSH: C538236; MedGen: C0342471; OMIM: 201810
Assertion and evidence details
Last Updated: Feb 20, 2024