|
rs121964895
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs121964895
|
|
|
0.750 |
GeneticVariation |
BEFREE |
It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance.
|
21264446 |
2011 |
|
rs121964895
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Women with von Willebrand's disease and R1205H and C1130F mutations (17 pregnancies in 12 women) had only a slight increase of factor VIII and von Willebrand factor during pregnancy while their response to desmopressin was marked but short-lived.
|
19951969 |
2010 |
|
rs121964895
|
|
|
0.750 |
GeneticVariation |
BEFREE |
After the initial demonstration that a reduced VWF survival is present in patients with R1205H mutation (VWD Vicenza), several other mutations, mostly occurring in the VWF D3 domain, have been shown to be associated with accelerated removal of released VWF.
|
19630772 |
2009 |
|
rs121964895
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Genetic analysis revealed that 15 patients (from 5 unrelated families) were type Vicenza VWD and that all carried both G2220A and G3614A type Vicenza mutations barring one, who only had the G3614A mutation.
|
16459168 |
2006 |
|
rs121964895
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.
|
16870550 |
2006 |
|
rs61749397
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61749397
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In summary, our studies identify altered PKC signaling as the underlying cause of platelet hypofunction in p.V1316M-associated VWD type 2B.
|
29925524 |
2018 |
|
rs61749397
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy.
|
27885890 |
2017 |
|
rs61749397
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We engineered the first knock-in (KI) murine model for VWD-type 2B by introducing the p.V1316M mutation in murine VWF.
|
27212476 |
2016 |
|
rs61749397
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M.
|
20200350 |
2010 |
|
rs61750117
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Compared with wild-type VWF A2-domain, calcium-binding mutants including the common von Willebrand disease (VWD) type 2A R1597W mutant were expressed in an open conformation in ECs and were highly susceptible to intracellular proteolysis.
|
29296853 |
2017 |
|
rs61750117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD.
|
8865541 |
1996 |
|
rs267607328
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs41276738
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61749387
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61749395
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750070
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750071
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750072
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750100
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61751288
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs61750072
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutations p.Ser1506Leu and p.Arg1374His/Cys/Ser were the most frequent mutations in 2A (33 % of cases) and 2M VWD (67 % of cases), respectively.
|
28536718 |
2017 |
|
rs61750100
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutations p.Ser1506Leu and p.Arg1374His/Cys/Ser were the most frequent mutations in 2A (33 % of cases) and 2M VWD (67 % of cases), respectively.
|
28536718 |
2017 |