rs1060499616
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs74315450
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
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 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
T cell acute lymphoblastic leukemia arising from familial platelet disorder.
|
20549580 |
2010 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?
|
19387465 |
2009 |
rs1057519748
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
|
28513614 |
2017 |
rs1555889984
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India.
|
30990344 |
2019 |
rs1555889984
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569061768
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
rs587776809
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
rs121912498
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.
|
17290219 |
2007 |
rs1060502579
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569084116
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs587776811
|
|
G |
0.700 |
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 |
rs74315451
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.
|
12060124 |
2002 |
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 |
rs1569084530
|
|
GCGCCGGCGTCCGGGGCGCCCAGCGGCAA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |