t(2;22)(q34;q12)

Preferred Label : t(2;22)(q34;q12);

NCIt definition : A chromosomal translocation involving the CREB1 gene at 2q34 and the EWSR1 gene at 22q12.;

NCI Metathesaurus CUI : CL1411987;

Details

Origin ID

C174481;

UMLS CUI

C5420799;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 2 [NCIt concept]
- Human Chromosome 22 [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Adult Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Advanced Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Childhood Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Metastatic Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Recurrent Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Refractory Clear Cell Sarcoma of Soft Tissue [NCIt concept]
molecular_abnormality_involves_gene
- CREB1 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]
- EWSR1/CREB1 Fusion Gene [NCIt concept]
- FET Family Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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