D136G (p.Asp136Gly) variant of HMGCS2 (P54868)
D136G (p.Asp136Gly) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The record also includes structural context.
D136G (p.Asp136Gly) variant details
- p.Asp136Gly
- rs2101273359
- ClinGen CA341865396
- ClinVar RCV001794528
- Ensembl rs2101273359
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available