Mutation Details for c.305T>G

cDNA Name c.305T>G 
Protein Name p.Leu102Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L102R 
Other Details  
Contributors F.Torricelli, C.Centrone, E.Pelo, T. Repetto , G.Taccetti   2005-10-25
Institute SOD Genetica AOU CAREGGI ?Cystic Fibrosis Center AOU Meyer .Florence Italy 
Submitted Phenotype Details female patient , italian origin.55 years old, diagnosed at 31 years , PI, lung disease with Pseudomonas chronic infection glucose intollerance sweat test CL 107 mEq/L G1244E on the other allele  

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The Database was last updated at Apr 25, 2011