|| common in clinvar
|| Heterozygous for BAK platelet-specific alloantigen
|| BAK platelet-specific alloantigen
rs5911, also known as Ile874Ser or Ile843Ser, is a SNP in the ITGA2B gene on chromosome 17. In the context of the plus strand nomenclature used by dbSNP, rs5911(A) encodes the Ile, and rs5911(G) the Ser. The rs5911(C) allele gives rise to the platelet-specific alloantigen known as BAK.
Of some historic interest in the field of platelet transfusion, the BAK alloantigen (rs5911(C;C) homozygotes) has more recently been reported in a small study of healthy Chinese males to be associated with decreased ex vivo antiplatelet activity of ticagrelor.[PMID 24474638]
|?|| (A;A) (A;C) (C;C) ||28|
| Disease Association
|| Defects in ITGA2B are a cause of Glanzmann thrombasthenia (GT) (MIM:273800); also known as thrombasthenia of Glanzmann and Naegeli. This autosomal recessive disorder is the most common inherited disease of platelets. GT is characterized by mucocutaneous bleeding of mild-to-moderate severity and the inability of this integrin to recognize macromolecular or synthetic peptide ligands.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 26495016] The Effect of Xuefuzhuyu Oral Liquid on Aspirin Resistance and Its Association with rs5911, rs5787, and rs3842788 Gene Polymorphisms