Mutation Details for c.1494G>C

cDNA Name c.1494G>C 
Protein Name p.Met498Ile 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name M498I 
Other Details This mutation was identified on one CF chromosome from a patient born in Reunion Island. 
Contributors T.Bienvenu, M.Viel, C.Leroy, F Cartault, JF Lesure   2005-11-03
Institute Laboratoire de Biochimie et Genetique Moleculaires, Hopital Cochin, Paris, France 
Submitted Phenotype Details This missense mutation has been identified in a girl with meconium ileus at birth. She presents hypertrypsinogenemia (130ng at day3) and a positive sweat test (100 mEq/l). She is bearing the Y122X mutation on the other CF chromosome. 

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The Database was last updated at Apr 25, 2011