NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001056064.6
Allele description [Variation Report for NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del)]
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del)
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
-
ACADL [Papio anubis]
ACADL [Papio anubis]Gene ID:101024730Gene
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Last Updated: Mar 5, 2024