Mutation Details for c.217delC

cDNA Name c.217delC 
Protein Name p.Leu73PhefsX18 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 347delC 
Other Details 347delC was found in one French CF patient, with the other mutation being N1303K. 
Contributors Chevalier-Porst F, Bozon D   1995-06-30
Institute Hopital Debrousse 
Submitted Phenotype Details 347delC was found in a patient also carrying N1303K, born 1990, female, diagnosed at 6 months. (pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon (NL#66) 

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The Database was last updated at Apr 25, 2011