S71* (p.Ser71Ter) variant of VWF (von Willebrand factor)
S71* (p.Ser71Ter) in VWF (von Willebrand factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
S71* (p.Ser71Ter) variant details
- p.Ser71Ter
- rs62643619
- ClinGen CA228310
- ClinVar RCV000086590
- ClinVar RCV004771460
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)