Mutation Details for c.4242_4242+1delGGinsTT

cDNA Name c.4242_4242+1delGGinsTT 
Protein Name p.Leu1414Phe 
Exon or Intron exon 26 - intron 26 
Legacy Exon or Intron exon 23 - intron 23 
Legacy Name 4374_4374+1GG>TT 
Other Details The complex mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 122 microg/L and positive sweat test). It was inherited from the mother, who is from Western France.  
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details The child is still asymptomatic. 

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The Database was last updated at Apr 25, 2011