NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND Congenital lipoid adrenal hyperplasia due to STAR deficency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002288483.1
Allele description [Variation Report for NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)]
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
Condition(s)
- Name:
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Synonyms:
- ADRENAL HYPERPLASIA I; Congenital lipoid adrenal hyperplasia; Lipoid CAH; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008725; MedGen: C0342474; Orphanet: 418; OMIM: 201710
Assertion and evidence details
Last Updated: Mar 23, 2024