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BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1075T>G Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C130222

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 guanine at nucleotide position 1075 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.1075T>G Mutation

Synonyms
  • BCR/ABL Fusion Gene with NM_005157.4:c.1075T>G
  • BCR/ABL Fusion Gene with NM_005157.5:c.1075T>G
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1075T>G Mutation
  • BCR/ABL1 Fusion Gene with ABL1 NM_005157.5:c.1075T>G
  • BCR/ABL1 Fusion Gene with NM_005157.4:c.1075T>G
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

CL513794

Preferred Name

BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1075T>G Mutation

Related To Genetic Biomarker

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

SNP ID

rs121913452

Semantic Type

Gene or Genome

code

C130222