Q78* (p.Gln78Ter) variant of ATXN3 (Ataxin-3)
Q78* (p.Gln78Ter) in ATXN3 (Ataxin-3) is a protein-truncating change. The record also includes structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- TOPMed rs2065168091
- Stop Gained
- Structural context available