H147R (p.His147Arg) variant of C9ORF72 (Q96LT7)
H147R (p.His147Arg) in C9ORF72 (Q96LT7) is a missense change. The record also includes structural context.
H147R (p.His147Arg) variant details
- p.His147Arg
- ExAC rs757995593
- gnomAD rs757995593
- Missense
- Structural context available