S47* (p.Ser47Ter) variant of PMP22 (Peripheral myelin protein 22)
S47* (p.Ser47Ter) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. The record also includes structural context.
S47* (p.Ser47Ter) variant details
- p.Ser47Ter
- cosmic curated COSV56603
- Stop Gained
- Structural context available