Mutation Details for c.1489A>G

cDNA Name c.1489A>G 
Protein Name p.Ile497Val 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I497V 
Other Details  
Contributors Arduino C.   2002-01-01
Institute Servizio di Genetica Medica, Torino, Italy 
Submitted Phenotype Details The male patient (54 years old) was diagnosed when 46 years old. He has no lung disease, is PI and has chronic pancreatitis. There is no other known mutation. (pers.corr. Arduino) 

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The Database was last updated at Apr 25, 2011