rs895580593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated an iPSC line (GENYOi005-A) from a FPDMM patient with a non-previously reported variant p.Thr196Ala.
|
31698193 |
2019 |
rs1060499616
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
|
28960434 |
2018 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
T cell acute lymphoblastic leukemia arising from familial platelet disorder.
|
20549580 |
2010 |
rs1060499616
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |
rs74315450
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |
rs121912498
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |
rs74315451
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |
rs74315450
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.
|
23817177 |
2013 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
|
28513614 |
2017 |
rs1060499616
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
rs74315450
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
rs121912498
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
rs121912499
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
rs587776810
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
rs1569002296
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
|
20846103 |
2010 |
rs267607026
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
|
19357396 |
2009 |
rs1555884790
|
|
GGC |
0.700 |
CausalMutation |
CLINVAR |
Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.
|
24353905 |
2012 |
rs1060499616
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs1060499616
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs74315450
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs74315450
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs1569061768
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs74315450
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
|
27112265 |
2016 |
rs267607026
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
|
27112265 |
2016 |