NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro) AND Gonadotropin-independent familial sexual precocity
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015487.26
Allele description [Variation Report for NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)]
NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)
Condition(s)
- Name:
- Gonadotropin-independent familial sexual precocity
- Synonyms:
- Testotoxicosis; Pubertas Praecox; Familial Testotoxicosis (subtype); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008303; MedGen: C0342549; Orphanet: 3000; OMIM: 176410
Assertion and evidence details
Last Updated: Sep 1, 2024