NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro) AND Leydig cell agenesis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001140023.4
Allele description [Variation Report for NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro)]
NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro)
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
-
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Last Updated: Sep 1, 2024