N33D (p.Asn33Asp) variant of ITGA2B (Integrin alpha-IIb)
N33D (p.Asn33Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The record also includes structural context.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- rs2510088109
- ClinGen CA399806951
- ClinVar RCV002511566
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available