Mutation Details for c.1117-27_1117-26delTA

cDNA Name c.1117-27_1117-26delTA 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1249-27delTA 
Other Details This mutation was found in a nine-year old patient with a diagnosis of ABPA. The patient also has central bronchiectasis, recurrent sinus infections, and pancreatitis. Sweat testing showed values of 46 and 49 mmol/L. Tests were negative for Pseudomonas. Screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A455E, [delta]I507, 1717-1G->T, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot revealed the [delta]F508 mutation on one allele. The 1249-27delTA mutation was found after screening all 27 exons by DGGE and sequencing of the exon 8 region. 
Contributors Egan MM, Wang X, Cutting GR   1998-09-11
Institute Johns Hopkins University, Baltimore, USA 
Submitted Phenotype Details  
Reference Egan et al. (NL#70) 

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The Database was last updated at Apr 25, 2011