BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.763G A Mutation

Preferred Label : BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.763G A Mutation;

NCIt synonyms : BCR/ABL Fusion Gene with NM_005157.5:c.763G A; BCR/ABL Fusion Gene with NM_005157.4:c.763G A; BCR/ABL1 Fusion Gene with ABL1 NM_005157.5:c.763G A; BCR/ABL1 Fusion Gene with NM_005157.4:c.763G A; BCR::ABL1 Fusion Gene with ABL1 NM_005157.4:c.763G A Mutation;

NCIt definition : A fusion gene that results from a translocation t(9;22)(q34;q11) that fuses the 5' part of the BCR gene to the 5' side of exon 2 of a mutated form of the ABL1 gene. In this fusion gene there is a point mutation where guanine has been substituted with adenine at nucleotide position 763 of the ABL1 gene. This mutation is associated with imatinib- and nilotinib-resistant leukemias.;

NCIt note : The position of the point mutation is denoted by its location in the ABL1 cDNA sequence (NCBI Reference Sequence: NM_005157.4) and not its location in the fusion gene cDNA.;

NCI Metathesaurus CUI : CL513804;

SNP ID : rs121913448;

Details

Origin ID

C130211;

UMLS CUI

C4329401;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E255K [NCIt concept]
gene_has_abnormality
- BCR-ABL TKI-Resistant Mutation [NCIt concept]
- t(9;22)(q34.1;q11.2) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with BCR-ABL1 [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ABL1 Gene [NCIt concept]
- BCR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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