Mutation Details for c.2233G>T

cDNA Name c.2233G>T 
Protein Name p.Gly745X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name G745X(Gly745X) 
Other Details This mutation was detected by dHPLC and direct sequencing in a CF patient.  
Contributors T.Bienvenu, M.Viel and C.Leroy   2005-03-22
Institute Laboratoire de Biochimie et Genetique Moleculaire, Hospital Cochin, Paris, France 
Submitted Phenotype Details This French patient was born in 1981 and has the F508del mutation on the other CF chromosome. He presents a classical form of the disease with pancreatic insufficiency. 

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The Database was last updated at Apr 25, 2011