C31Y (p.Cys31Tyr) variant of ITGB3 (Integrin beta-3)
C31Y (p.Cys31Tyr) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The record also includes structural context.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- rs2547613534
- ClinGen CA400031593
- ClinVar RCV002511540
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available