G48C (p.Gly48Cys) variant of ATXN1 (Ataxin-1)
G48C (p.Gly48Cys) in ATXN1 (Ataxin-1) is a missense change. The record also includes structural context.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- gnomAD rs1206306975
- Missense
- Structural context available