|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis.
|
18508790 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells.
|
19815050 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F.
|
22251709 |
2012 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617F or exon 12) in almost all cases.
|
25278584 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F.
|
26324368 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by an overactive Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway through mutations in JAK2 exons 12 or 14 (JAK2 V617F).
|
26894383 |
2016 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease.
|
16709929 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001).
|
16772604 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F-positive ET and P</span>V displayed significant differences in their serum protein profiles.
|
18838204 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation.
|
20660330 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A further longitudinal study monitoring V617F positive-cells will clarify the process of progression from IE to PV in such a patient.
|
18528646 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A gradient was observed in laboratory values between patients with JAK2 wild-type ET, JAK2 V617F ET and PV (all of whom carried the JAK2 mutation).
|
17229651 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles.
|
16373657 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
|
rs4495487
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV.
|
22251709 |
2012 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera.
|
19772888 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
|
30558676 |
2018 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) and diagnosis of PV (p = 0.0122).
|
23542632 |
2013 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
|
17266061 |
2007 |