Q69* (p.Gln69Ter) variant of PLP1 (Myelin proteolipid protein)
Q69* (p.Gln69Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs2147764198
- ClinGen CA414102425
- ClinVar RCV001963109
- Ensembl rs2147764198
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)