Mutation Details for c.2615delC

cDNA Name c.2615delC 
Protein Name p.Ala872GlufsX34 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2747delC 
Other Details The mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 206 microg/L and sweat chloride 90 mEq/L). It was inherited from the father, who is from France and Poland.  
Contributors E. Girodon, M. Legendre, 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