Mutation Details for c.629T>C

cDNA Name c.629T>C 
Protein Name p.Leu210Pro 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name L210P 
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 15y M, diagnosed at 14y, PS, no lung disease, positive sweat chloride, nasal polyposis. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011