Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR [Correlation between point mutation in ABL kinase and clinical outcome of chronic myeloid leukemia patients]. 25152116

2014
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 23676790

2013
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Detection of ABL1 kinase mutations in Philadelphia-positive patients exhibiting an inadequate molecular response using restriction fragment mass polymorphism and its clinical significance: a single-center experience in Korea. 23575252

2013
dbSNP: rs121913452
rs121913452
ABL1
0.740 GeneticVariation BEFREE Dasatinib overrides imatinib resistance mediated by the F359I residue mutation in two patients with chronic myeloid leukemia. 22094354

2012
dbSNP: rs121913452
rs121913452
ABL1
A 0.740 GeneticVariation CLINVAR BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet. 21562040

2011
dbSNP: rs121913452
rs121913452
ABL1
C 0.740 GeneticVariation CLINVAR BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet. 21562040

2011
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia. 21895409

2011
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors. 19768693

2010
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Mutations in ABL kinase domain are associated with inferior progression-free survival. 20367437

2010
dbSNP: rs121913452
rs121913452
ABL1
0.740 GeneticVariation BEFREE In 1 patient with lymphoid blast crisis of CML coexisting F359V and Y253F mutations were detected. 20010464

2009
dbSNP: rs121913452
rs121913452
ABL1
0.740 GeneticVariation BEFREE Dasatinib treatment can overcome imatinib and nilotinib resistance in CML patient carrying F359I mutation of BCR-ABL oncogene. 18436994

2008
dbSNP: rs121913452
rs121913452
ABL1
0.740 GeneticVariation BEFREE We conclude that (a) amino acid substitutions at seven residues (M244V, G250E, Y253F/H, E255K/V, T315I, M351T, and F359V) account for 85% of all resistance-associated mutations; (b) the search for mutations is important both in case of imatinib failure and in case of loss of response at the hematologic or cytogenetic level; (c) advanced-phase chronic myeloid leukemia and Ph+ ALL patients have a higher likelihood of developing imatinib-resistant mutations; and (d) the presence of either P-loop or T315I mutations in imatinib-treated patients should warn the clinician to reconsider the therapeutic strategy. 17189410

2006
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. 14745431

2004
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. 12623848

2003