V248N (p.Val248Asn) variant of HSD3B2 (P26439)
V248N (p.Val248Asn) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of 3 beta-Hydroxysteroid dehydrogenase deficiency. The record also includes published literature and structural context.
V248N (p.Val248Asn) variant details
- p.Val248Asn
- rs121964896
- ClinVar RCV000012969
- Ensembl rs121964896
- no classification for the single variant
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3… (PMID 8284113)