Mutation Details for c.(?_1394)_(1766_?)dup

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.(?_1394)_(1766_?)dup 
Exon or Intron exon 12 - exon 14 
Legacy Exon or Intron exon 11 - exon 13 
Legacy Name CFTRdup11_13 
Other Details The duplication was detected in a CBAVD patient by semi-quantitative fluorescent multiplex PCR targeted on the 27 CFTR exons. It was observed from two independent experiments targeted on different fragment sets, both including exons 11 to 13. The patient also carried the (TG)12T5 variant of IVS8. The patient is from Morocco.  
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Isolated CBAVD 

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The Database was last updated at Apr 25, 2011