Q77* (p.Gln77Ter) variant of VWF (von Willebrand factor)
Q77* (p.Gln77Ter) 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.
Q77* (p.Gln77Ter) variant details
- p.Gln77Ter
- rs2136522827
- ClinGen CA383519645
- ClinVar RCV001787188
- Ensembl rs2136522827
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)