ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
Disease: Glanzmann Thrombasthenia, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255514
rs879255514
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011
dbSNP: rs879255514
rs879255514
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		0.700 GeneticVariation UNIPROT R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998