Mutation Details for c.4251delA

cDNA Name c.4251delA 
Protein Name p.Glu1418ArgfsX14 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name 4382delA 
Other Details This new mutation was detected by SSCP in exon 24. This mutation destroys a MboII restriction site and results in a stopp codon (UGA) 15 codons downstream. It has been found in one CF patient from Southern France. 
Contributors Claustres M, Desgeorges M, Kjellberg P   1992-07-31
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Phenotype Information CFTR2
Reference Claustres et al. 1993 

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The Database was last updated at Apr 25, 2011