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chromosomal translocation t(2;3)(q35;q21) (renal cell carcinoma)
- chromosomal translocation t(2;3)(q35;q21) involving HSPBAP1 with the putative pseudogene DIRC3 is found in familial renal cell carcinoma 1
- results in hybrid mRNA encoding a truncated HSPBAP1 lacking 1st 36 amino acids
- chromosomal translocation t(2;3)(q35;q21) involving DIRC2 is found in familial renal cell carcinoma 1 (RCC1)
Properties
GENERAL: chromosomal translocation
FORM: t(2;3)(q35;q21)
LOCUS: human chromosome-2 Q35
human chromosome-3 Q21
PATHOLOGY: renal cell carcinoma
References
UniProt :accession Q96EW2, Q96SL1