NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) AND Pseudohermaphroditism
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 29, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000583085.1
Allele description [Variation Report for NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)]
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)
Condition(s)
- Name:
- Pseudohermaphroditism
- Identifiers:
- MONDO: MONDO:0005518; MedGen: C0033804
Assertion and evidence details
Last Updated: Mar 26, 2023