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t(12;21)(p13.2;q22.1)

MedGen UID:
308367
•Concept ID:
C1515717
•
Cell or Molecular Dysfunction
Synonym: t(12;21)(p13;q22)

Definition

A translocation between chromosomes 12 and 21 involved in TEL-AML1 oncogene formation. The translocation produces a chimeric gene encoding a protein consisting of the N-terminal HLH domain of the TEL ETS-like transcription factor fused with a nearly complete AML1 protein. t(12;21) is the most frequent translocation causing ALL, accounting for 20% of ALL cases. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(12;21)(p13.2;q22.1)

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