NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003988818.3
Allele description [Variation Report for NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)]
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
Condition(s)
- Name:
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Synonyms:
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Identifiers:
- MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910
Assertion and evidence details
Last Updated: Aug 4, 2024