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chromosomal translocation t(12;22)(q24.1;q13.3)

Pathology: - chromosomal translocation t(12;22)(q24.1;q13.3) involving SHANK3 & DIP13B associated with chromosome 22q13.3 deletion syndrome

Properties

GENERAL: chromosomal translocation RELATED: SHANK3 gene DCC-interacting protein 13 beta FORM: t(12;22)(q24.1;q13.3) LOCUS: human chromosome-12 Q24.1 human chromosome-22 Q13.3 ABERRANT-GENE: DIP13B gene DIP13B gene

References

  1. UniProt :accession Q71F56
  2. OMIM :accession 606232