C82* (p.Cys82Ter) variant of PRPH2 (Peripherin-2)
C82* (p.Cys82Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C82* (p.Cys82Ter) variant details
- p.Cys82Ter
- rs1242862941
- ClinGen CA364138153
- ClinVar RCV001073624
- ClinVar RCV001250293
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available