W61* (p.Trp61Ter) variant of REEP1 (Q9H902)
W61* (p.Trp61Ter) 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.
W61* (p.Trp61Ter) variant details
- p.Trp61Ter
- rs1558898568
- ClinGen CA347719879
- ClinVar RCV000760593
- ClinVar RCV001855928
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)