t(14;20)(q32;q12)

Preferred Label : t(14;20)(q32;q12);

NCIt synonyms : t(14;20)(q32;q12) IGH::MAFB; t(14;20)(q32;q12) IGH:MAFB; t(14;20)(q32;q12) IGH-MAFB; t(14;20)(q32;q12) IGH/MAFB;

NCIt definition : A cytogenetic abnormality that refers to the translocation of the long arm (q32) of chromosome 14 and the long arm (q12) of chromosome 20. This juxtaposes the MAFB gene with the promoter regions of the immunoglobulin heavy chain gene locus, which results in overexpression of the transcription factor MafB protein.;

NCI Metathesaurus CUI : CL1904932;

Details

Origin ID

C191647;

UMLS CUI

C4740246;

Currated CISMeF NLP mapping
- t(14;20)(q32;q12)(IGH,MAFB) [LOINC component]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- t(14;20)(q32;q12)(IGH,MAFB) [LOINC component]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 14 [NCIt concept]
- Human Chromosome 20 [NCIt concept]
is_abnormality_of_gene
- IGH/MAFB Fusion Gene [NCIt concept]
molecular_abnormality_involves_gene
- IGH Locus Fusion Gene [NCIt concept]
- IGH/MAFB Fusion Gene [NCIt concept]
- Immunoglobulin Heavy Locus [NCIt concept]
- MAF Family Gene [NCIt concept]
- MAFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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