C35* (p.Cys35Ter) variant of PLP1 (Myelin proteolipid protein)
C35* (p.Cys35Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HLD1. The record also includes published literature and structural context.
C35* (p.Cys35Ter) variant details
- p.Cys35Ter
- rs2522301484
- ClinVar RCV004595759
- Likely pathogenic
- in HLD1
- Stop Gained
- EBI: Likely pathogenic (in HLD1)
- UniProt: Likely pathogenic (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)