t(2;4)(q36.1;q31.1)

Preferred Label : t(2;4)(q36.1;q31.1);

NCIt synonyms : t(2;4)(q36;q31);

NCIt definition : A chromosomal translocation involving the PAX3 gene at 2q36.1 and the MAML3 gene at 4q31.1. This translocation is associated with biphenotypic sinonasal sarcoma.;

NCI Metathesaurus CUI : CL1920853;

PubMed : 24859338;

Details

Origin ID

C201663;

UMLS CUI

C5908153;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 2 [NCIt concept]
- Human Chromosome 4 [NCIt concept]
is_abnormality_of_gene
- PAX3/MAML3 Fusion Gene [NCIt concept]
molecular_abnormality_involves_gene
- MAML3 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]
- PAX3/MAML3 Fusion Gene [NCIt concept]

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