|
rs77375493
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1232880706
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1565295267
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs754190776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new abnormal hemoglobin, Hb Villejuif [beta 123(H1) Thr----Ile] has been discovered during the exploration of a polycythemia in a 87-year-old patient of French origin.
|
2816924 |
1989 |
|
rs137853036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter.
|
29172931 |
2017 |
|
rs33927093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia.
|
8522332 |
1995 |
|
rs35594230
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia.
|
8522332 |
1995 |
|
rs104893831
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension.
|
24729484 |
2014 |
|
rs775206089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension.
|
24729484 |
2014 |
|
rs200351681
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous loss of function mutation of VHL (VHL 598C>T) gene can associate with polycythemia because of an altered hypoxia sensing.
|
31568062 |
2020 |
|
rs775387828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors.
|
23538339 |
2013 |
|
rs780178275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors.
|
23538339 |
2013 |
|
rs62638745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994).
|
8608241 |
1996 |
|
rs142094773
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994).
|
8608241 |
1996 |
|
rs869025650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs201051019
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs869025650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F.
|
17183644 |
2006 |
|
rs28940298
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias.
|
24729484 |
2014 |
|
rs28940301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias.
|
24729484 |
2014 |
|
rs12097901
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.[12C>G; 380G>C] mutation abrogates hypoxia-induced and HIF-mediated augmentation of erythropoiesis, which provides a molecular mechanism for the observed protection of Tibetans from polycythemia at high altitude.
|
25129147 |
2014 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria.
|
22262773 |
2012 |
|
rs28940301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
|
23403324 |
2013 |
|
rs771912975
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
|
23403324 |
2013 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |