NM_000145.4(FSHR):c.2T>C (p.Met1Thr) AND Amenorrhea
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626622.2
Allele description [Variation Report for NM_000145.4(FSHR):c.2T>C (p.Met1Thr)]
NM_000145.4(FSHR):c.2T>C (p.Met1Thr)
Condition(s)
- Name:
- Amenorrhea
- Identifiers:
- MONDO: MONDO:0001836; MedGen: C0002453; Human Phenotype Ontology: HP:0000141
Assertion and evidence details
Last Updated: Sep 3, 2023