C106* (p.Cys106Ter) variant of HMGCS2 (P54868)
C106* (p.Cys106Ter) in HMGCS2 (P54868) is a protein-truncating change. The record also includes structural context.
C106* (p.Cys106Ter) variant details
- p.Cys106Ter
- cosmic curated COSV65568
- gnomAD rs1426710599
- Stop Gained
- Structural context available