S75* (p.Ser75Ter) variant of DSG1 (Desmoglein-1)
S75* (p.Ser75Ter) in DSG1 (Desmoglein-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S75* (p.Ser75Ter) variant details
- p.Ser75Ter
- rs2511043841
- ClinGen CA402128025
- ClinVar RCV003572354
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available