C7* (p.Cys7Ter) variant of PLP1 (Myelin proteolipid protein)
C7* (p.Cys7Ter) 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.
C7* (p.Cys7Ter) variant details
- p.Cys7Ter
- rs1038021317
- ClinGen CA414101786
- ClinVar RCV001329970
- Ensembl rs1038021317
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)