Mutation Details for c.2988+41delA

cDNA Name c.2988+41delA 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3120+41delA 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The mutation was found in a 47y F, diagnosed at 44y, PS, with moderate lung disease, disseminated bronchiectasis likely not linked to CFTR mutations; 3120+41delA considered as a polymorphism. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011