NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) AND Congenital adrenal hyperplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000332617.5
Allele description [Variation Report for NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)]
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)
Condition(s)
- Name:
- Congenital adrenal hyperplasia (CAH)
- Identifiers:
- MONDO: MONDO:0018479; MedGen: C0001627; Human Phenotype Ontology: HP:0008258
Assertion and evidence details
Last Updated: Dec 24, 2023