NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) AND Leydig cell agenesis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 1, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015492.25
Allele description [Variation Report for NM_000233.4(LHCGR):c.430G>T (p.Val144Phe)]
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe)
Condition(s)
- Name:
- Leydig cell agenesis
- Synonyms:
- LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM; LEYDIG CELL HYPOPLASIA, COMPLETE; HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009384; MedGen: C0266432; OMIM: 238320
Assertion and evidence details
Last Updated: Apr 23, 2022