t(X;1)(p11.2;p34)

Preferred Label : t(X;1)(p11.2;p34);

NCIt synonyms : t X 1 p11 p34;

NCIt definition : A chromosomal translocation involving breakpoints within the p11.2 band on the short arm of the X chromosome and the p34 band on the short arm of chromosome 1. This rearrangement is associated with SFPQ-TFE3 fusion gene expression and TFE3-rearranged renal cell carcinoma.;

PubMed : 20620589; 9393982;

Details

Origin ID

C37875;

UMLS CUI

C1515815;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 1 [NCIt concept]
- Human Chromosome X [NCIt concept]
is_abnormality_of_gene
- SFPQ/TFE3 Fusion Gene [NCIt concept]
molecular_abnormality_involves_gene
- SFPQ Gene [NCIt concept]
- SFPQ/TFE3 Fusion Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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