Mutation Details for c.938C>A

cDNA Name c.938C>A 
Protein Name p.Ser313X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name S313X 
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 male patient , italian origin., screening diagnosed dead at age of 17 years one year after lungs transplantation, PI, severe lung disease with Pseudomonas chronic infection, diabetes sweat test CL 109 mEq/L F508del on the other allele  

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The Database was last updated at Apr 25, 2011