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BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.949T>C Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C130217

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 thymine has been substituted with cytosine at nucleotide position 949 of the ABL1 gene. This mutation is associated with imatinib- and dasatinib-resistant leukemias. [ ]

Term info

Label

BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.949T>C Mutation

Synonyms
  • BCR/ABL Fusion Gene with NM_005157.4:c.949T>C
  • BCR/ABL Fusion Gene with NM_005157.5:c.949T>C
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.949T>C Mutation
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.5:c.949T>C
  • BCR/ABL1 Fusion Gene with NM_005157.4:c.949T>C
DesignNote

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 META CUI

CL513810

Preferred Name

BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.949T>C Mutation

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C17346, http://purl.obolibrary.org/obo/NCIT_C18455

Semantic Type

Gene or Genome

code

C130217