Mutation Details for c.3497delT

cDNA Name c.3497delT 
Protein Name p.Phe1166SerfsX26 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3629delT 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The 2y M patient was diagnosed at 3m, is PI, has severe pulmonary disease and positive sweat chloride, also cariies 875+1G->A and S1235R. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011