Mutation Details for c.4114C>A

cDNA Name c.4114C>A 
Protein Name p.Pro1372Thr 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name P1372T 
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 11y F, diagnosed at 10y, PS, with severe lung disease (bronchiectasis) and discordant sweat chloride. The patient comes from Southern Italy and carries deltaF508 on the other allele. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011