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BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.764A>T Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C131012

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 adenine has been substituted with thymine at nucleotide position 764 of the ABL1 gene. This mutation is associated with imatinib- and nilotinib-resistant leukemias. [ ]

Term info

Label

BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.764A>T Mutation

Synonyms
  • BCR/ABL Fusion Gene with NM_005157.4:c.764A>T
  • BCR/ABL Fusion Gene with NM_005157.5:c.764A>T
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.764A>T Mutation
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.5:c.764A>T
  • BCR/ABL1 Fusion Gene with NM_005157.4:c.764A>T
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

CL513805

Preferred Name

BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.764A>T Mutation

Related To Genetic Biomarker

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

SNP ID

rs121913449

Semantic Type

Gene or Genome

code

C131012