Y60* (p.Tyr60Ter) variant of PLP1 (Myelin proteolipid protein)
Y60* (p.Tyr60Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HLD1. The record also includes published literature and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- rs2522301939
- ClinGen CA414102360
- ClinVar RCV002922866
- Pathogenic
- in HLD1
- Stop Gained
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)