NM_000348.4(SRD5A2):c.462T>C (p.Ile154=) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003501004.2
Allele description [Variation Report for NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)]
NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)
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
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Homo sapiens 3 BAC RP11-452B4 (Roswell Park Cancer Institute Human BAC Library) ...
Homo sapiens 3 BAC RP11-452B4 (Roswell Park Cancer Institute Human BAC Library) complete sequencegi|22002094|gnl|bcmhgsc|project_hdy lor|gb|AC117463.5|Nucleotide
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Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone), mRNA (cDNA c...
Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone), mRNA (cDNA clone IMAGE:40030371), partial cdsgi|75516484|gb|BC104170.1|Nucleotide
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Last Updated: Sep 29, 2024