Y101* (p.Tyr101Ter) variant of PRPH2 (Peripherin-2)
Y101* (p.Tyr101Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y101* (p.Tyr101Ter) variant details
- p.Tyr101Ter
- rs61755776
- ClinGen CA364137922
- ClinVar RCV003044415
- ClinGen CA16618287
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)