Variant "ITGA2:c.1600G>A(p.Glu534Lys)"
Search result: 1 record
Variant information
Gene:
ITGA2 
Variant:
ITGA2:c.1600G>A(p.Glu534Lys) 
Genomic location:
chr5:52358757(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002203.3:c.1600G>A(p.Glu534Lys)
pseudogene NR_073103.1:n.1743G>A
pseudogene NR_073104.1:n.1743G>A
pseudogene NR_073105.1:n.1743G>A
pseudogene NR_073106.1:n.1743G>A
pseudogene NR_073107.1:n.1622G>A
show all
dbSNP ID:
rs1801106  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.002; OR=2.94; 95% CI: 1.49-5.77 
    Effect:
    The polymorphisms are associated with Vaso‐occlusive crisis
    Reference:
    PMID19702628
    Title:
    Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis.
    Species studied:
    Human
    Abstract:
    Vaso-occlusive crisis (VOC) is a significant cause of morbidity and mortality in sickle cell anemia (SCA) patients. Insofar as polymorphism in human platelet alloantigen (HPA) exhibit a prothrombotic nature, we hypothesized that specific HPA polymorphic variants are associated with VOC. We investigated the distribution of HPA1, HPA2, HPA3, HPA4, and HPA5 alleles genotypes among VOC and non-VOC control SCA patients.