NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) AND 3 beta-Hydroxysteroid dehydrogenase deficiency
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000327002.6
Allele description [Variation Report for NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)]
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)
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
-
type VI secretion system-associated protein,SciE-like [Serratia marcescens subsp...
type VI secretion system-associated protein,SciE-like [Serratia marcescens subsp. marcescens Db11]gi|560174113|emb|CDG12845.1|Protein
-
C62L [African swine fever virus]
C62L [African swine fever virus]Gene ID:41901120Gene
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Last Updated: Oct 13, 2024