V61G (p.Val61Gly) variant of HMGCS2 (P54868)
V61G (p.Val61Gly) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The record also includes structural context.
V61G (p.Val61Gly) variant details
- p.Val61Gly
- rs779833095
- ClinGen CA341866942
- ClinVar RCV002825692
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available