Mutation Details for c.2797A>G

cDNA Name c.2797A>G 
Protein Name p.Arg933Gly 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name R933G 
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 36y old M, PS, with moderate lung disease and borderline sweat chloride,; he has CBAVD, disseminated bronchiectasis. R553X 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