Variant "JAK2:c.1641+779C>G"
Search results: 3 records
Variant information
Gene:
JAK2 
Variant:
JAK2:c.1641+779C>G 
Genomic location:
chr9:5070831(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001322194.1:c.1641+779C>G
protein_coding NM_001322195.1:c.1641+779C>G
protein_coding NM_001322196.1:c.1641+779C>G
protein_coding NM_001322198.1:c.426+779C>G
protein_coding NM_001322199.1:c.426+779C>G
protein_coding NM_004972.3:c.1641+779C>G
protein_coding NM_001322204.1:c.1194+779C>G
show all
dbSNP ID:
rs10974944  
GWAS trait:
myeloproliferative disorder 
Modifier statisitcs
Record:
3 
Disorder:
3 
Reference:
1 
Effect type:
Expressivity(3)  
Modifier effect:
Altered degree of myeloproliferation and myeloid metaplasia(3)  
Details：
  • 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.
  • 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.
  • 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.