Terminology Service for NFDI4Health
BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation
Go to external page
http://purl.obolibrary.org/obo/NCIT_C123845
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 cytosine has been substituted with thymine at nucleotide position 944 of the ABL1 gene. This mutation is associated with imatinib-resistant leukemias. [ ]
Term info
Label
BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation
Synonyms
- BCR/ABL Fusion Gene with NM_005157.4:c.944C>T
- BCR/ABL Fusion Gene with NM_005157.5:c.944C>T
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.5:c.944C>T
- BCR/ABL1 Fusion Gene with NM_005157.4:c.944C>T
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
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.
Display Name
BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation
Preferred Name
BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation
Related To Genetic Biomarker
http://purl.obolibrary.org/obo/NCIT_C17346, http://purl.obolibrary.org/obo/NCIT_C18455
SNP ID
rs121913459
Semantic Type
Gene or Genome
UMLS CUI
C4086014
code
C123845