NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) AND Premature ovarian failure
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001270218.3
Allele description [Variation Report for NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)]
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)
Condition(s)
- Name:
- Premature ovarian failure (POF)
- Synonyms:
- Primary ovarian insufficiency; Primary ovarian failure
- Identifiers:
- MONDO: MONDO:0005387; MedGen: C0085215
Assertion and evidence details
Last Updated: Sep 3, 2023