Mutation Details for c.4036_4042del

cDNA Name c.4036_4042del 
Protein Name p.Leu1346MetfsX6 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4168delCTAAGCC 
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 CF patient , italian origin,23 years old, diagnosed at 23 months. He has PI, lung disease with Pseudomonas chronic infection, ABPA; sweat test CL 117 mEq/L Glucose intollerance UNK on the other allele  

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The Database was last updated at Apr 25, 2011