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chromosomal translocation t(2;22)(q33;q12)
- translocation t(2;22)(q33;q12) involving EWSR1 with CREB1 is a cause of angiomatoid fibrous histiocytoma.
- translocation generates a EWSR1/CREB1 fusion gene
- most common genetic abnormality in angiomatoid fibrous histiocytoma
Properties
GENERAL: chromosomal translocation
RELATED: RNA-binding protein EWS
cAMP response element-binding protein 1
FORM: t(2;22)(q33;q12)
LOCUS: human chromosome-2 Q33
human chromosome-22 Q12
PATHOLOGY: Ewing's sarcoma
ABERRANT-GENE:
References
UniProt :accession Q99581