S91* (p.Ser91Ter) variant of PKD1 (Polycystin-1)
S91* (p.Ser91Ter) 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.
S91* (p.Ser91Ter) variant details
- p.Ser91Ter
- rs1339097856
- ClinGen CA394396164
- ClinVar RCV001535930
- 1000Genomes rs1339097856
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)