NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001919035.4
Allele description [Variation Report for NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter)]
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter)
Condition(s)
- Name:
- Oligosynaptic infertility (SPGF1)
- Synonyms:
- SPERMATOGENIC FAILURE 1; OLIGOCHIASMATIC INFERTILITY
- Identifiers:
- MONDO: MONDO:0009776; MedGen: C0403810; OMIM: 258150
- Name:
- 46,XY disorder of sex development
- Synonyms:
- 46, XY disorder of sex development (DSD)
- Identifiers:
- MONDO: MONDO:0020040; MedGen: C2751824
Assertion and evidence details
Last Updated: Sep 29, 2024