G28R (p.Gly28Arg) variant of VWF (von Willebrand factor)
G28R (p.Gly28Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- NCI-TCGA Cosmic COSV5461
- ExAC rs777235699
- TOPMed rs777235699
- gnomAD rs777235699
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available