Q18* (p.Gln18Ter) variant of PKP1 (Plakophilin-1)
Q18* (p.Gln18Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The record also includes structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- Ensembl rs2102402191
- Stop Gained
- Structural context available