NM_000198.4(HSD3B2):c.*276C>T AND 3 beta-Hydroxysteroid dehydrogenase deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000335090.5
Allele description [Variation Report for NM_000198.4(HSD3B2):c.*276C>T]
NM_000198.4(HSD3B2):c.*276C>T
Condition(s)
- Name:
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Synonyms:
- Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008727; MeSH: C538236; MedGen: C0342471; OMIM: 201810
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GM10384 female unaffected Digeorge syndrome sample
GM10384 female unaffected Digeorge syndrome samplebiosample
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023