t(12;22)(p13;q11)

Preferred Label : t(12;22)(p13;q11);

NCIt synonyms : t 12 22 p13 q11;

NCIt definition : A chromosomal translocation involving breakpoints within the p13 band on the short arm of chromosome 12 and the q11 band on the long arm of chromosome 22. This rearrangement is associated with aberrant expression of the CCND2 gene and mantle cell lymphoma or MN1-ETV6 fusion gene expression and myeloid disorders.;

PubMed : 7731705;

Détails

Origin ID

C36607;

UMLS CUI

C1515718;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 12 [NCIt concept]
- Human Chromosome 22 [NCIt concept]
is_abnormality_of_gene
- ETV6/MN1 Fusion Gene [NCIt concept]
related_to_genetic_biomarker
- CCND2 Gene [NCIt concept]
- ETV6 Gene [NCIt concept]
- ETV6/MN1 Fusion Gene [NCIt concept]
- Immunoglobulin Lambda Locus [NCIt concept]
- MN1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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