Mutation Details for c.2065C>T

cDNA Name c.2065C>T 
Protein Name p.Gln689X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q689X 
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 21y old M, diagnosed at 18y, PS, no respiratory symptoms, positive sweat chloride, nasal polyposis, carrying 3849+10kbC->T-R668C 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