E108* (p.Glu108Ter) variant of PKD1 (Polycystin-1)
E108* (p.Glu108Ter) in PKD1 (Polycystin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E108* (p.Glu108Ter) variant details
- p.Glu108Ter
- rs1416011785
- ClinGen CA394395947
- ClinVar RCV001029912
- TOPMed rs1416011785
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)