R108* (p.Arg108Ter) variant of VWF (von Willebrand factor)
R108* (p.Arg108Ter) in VWF (von Willebrand factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R108* (p.Arg108Ter) variant details
- p.Arg108Ter
- rs2136522667
- ClinGen CA383519152
- ClinVar RCV001774769
- Ensembl rs2136522667
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)