C26* (p.Cys26Ter) variant of GRN (Progranulin)
C26* (p.Cys26Ter) in GRN (Progranulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C26* (p.Cys26Ter) variant details
- p.Cys26Ter
- rs2143325486
- ClinGen CA399759260
- ClinVar RCV001543435
- Ensembl rs2143325486
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available