Y65* (p.Tyr65Ter) variant of REEP1 (Q9H902)
Y65* (p.Tyr65Ter) in REEP1 (Q9H902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y65* (p.Tyr65Ter) variant details
- p.Tyr65Ter
- rs1676463508
- ClinGen CA347717637
- ClinVar RCV001224005
- ClinVar RCV004998744
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)