Mutation Details for c.1054C>G

cDNA Name c.1054C>G 
Protein Name p.Arg352Gly 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R352G 
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 24y M, diagnosed at 23y, with moderate lung disease, positive sweat chloride, asthma, bronchiectasis, pulmonary aspergillosis, 1342-6(5T) present. DeltaF508 was found 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