NM_000348.4(SRD5A2):c.699-1G>A AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459922.1
Allele description [Variation Report for NM_000348.4(SRD5A2):c.699-1G>A]
NM_000348.4(SRD5A2):c.699-1G>A
Condition(s)
- Name:
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (PPSH)
- Synonyms:
- Pseudovaginal perineoscrotal hypospadias; Male pseudohermaphroditism due to 5-alpha-reductase deficiency; Familial incomplete male pseudohermaphroditism, type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009923; MedGen: C0268297; Orphanet: 753; OMIM: 264600
-
WD repeat and SOCS box-containing protein 2 isoform 2 [Homo sapiens]
WD repeat and SOCS box-containing protein 2 isoform 2 [Homo sapiens]gi|8923881|ref|NP_061109.1|Protein
-
n-R5s139 nuclear encoded rRNA 5S 139 [Mus musculus]
n-R5s139 nuclear encoded rRNA 5S 139 [Mus musculus]Gene ID:100861493Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023