Mutation Details for c.415_416insGA

cDNA Name c.415_416insGA 
Protein Name p.His139ArgfsX15 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 547insGA 
Other Details The mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 193 microg/L and sweat chloride 104 mEq/L). The parents were from West Indies (Guadeloupe).  
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details The child had early CF symptoms: chest infections, P. aeruginosa colonization and pancreatic insufficiency. The sweat test was positive.  

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The Database was last updated at Apr 25, 2011