Gene "JAK2"
Found 3 records
Gene information
Gene symbol:
JAK2
See related:
Ensembl: ENSG00000096968, Gene ID: 3717
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
3 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(3)  
Modifier effect:
Altered degree of myeloproliferation and myeloid metaplasia(3)  
Details：
  • Variant 1:
    JAK2:c.1641+779C>G
    Gene:
    JAK2
    Genomic location:
    chr9:5070831
    dbSNP ID:
    rs10974944
    Target disease:
    Polycythemia Vera(DOID_8997)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered degree of myeloproliferation and myeloid metaplasia 
    Evidence:
    P<0.03 
    Effect:
    The JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC)
    Reference:
    PMID17961178
    Title:
    The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype.
    Species studied:
    Human
    Abstract:
    The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythemia vera (PV), and approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The three distinct disease entities may be considered as three phenotypic presentations of the same JAK2 V617F positive chronic myeloproliferative disorder. Together with physiological and genetic modifiers the phenotype may be determined by the JAK2 V617F allele burden. In the present study, we aimed to asses the JAK2 mutational load and its impact on phenotype.
  • Variant 2:
    JAK2:c.1641+779C>G
    Gene:
    JAK2
    Genomic location:
    chr9:5070831
    dbSNP ID:
    rs10974944
    Target disease:
    Replacement of bone marrow by fibrous tissue(No data)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered degree of myeloproliferation and myeloid metaplasia 
    Evidence:
    P<0.03 
    Effect:
    The JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC)
    Reference:
    PMID17961178
    Title:
    The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype.
    Species studied:
    Human
    Abstract:
    The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythemia vera (PV), and approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The three distinct disease entities may be considered as three phenotypic presentations of the same JAK2 V617F positive chronic myeloproliferative disorder. Together with physiological and genetic modifiers the phenotype may be determined by the JAK2 V617F allele burden. In the present study, we aimed to asses the JAK2 mutational load and its impact on phenotype.
  • Variant 3:
    JAK2:c.1641+779C>G
    Gene:
    JAK2
    Genomic location:
    chr9:5070831
    dbSNP ID:
    rs10974944
    Target disease:
    Thrombocytosis(DOID_2228)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered degree of myeloproliferation and myeloid metaplasia 
    Evidence:
    P<0.03 
    Effect:
    The JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC)
    Reference:
    PMID17961178
    Title:
    The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype.
    Species studied:
    Human
    Abstract:
    The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythemia vera (PV), and approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The three distinct disease entities may be considered as three phenotypic presentations of the same JAK2 V617F positive chronic myeloproliferative disorder. Together with physiological and genetic modifiers the phenotype may be determined by the JAK2 V617F allele burden. In the present study, we aimed to asses the JAK2 mutational load and its impact on phenotype.