NM_000102.4(CYP17A1):c.81C>A (p.Tyr27Ter) AND 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000001874.3
Allele description [Variation Report for NM_000102.4(CYP17A1):c.81C>A (p.Tyr27Ter)]
NM_000102.4(CYP17A1):c.81C>A (p.Tyr27Ter)
Condition(s)
- Name:
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- Identifiers:
- MONDO: MONDO:0800379; MedGen: CN042980
Assertion and evidence details
Last Updated: Jul 29, 2023