Mutation Details for c.357delC

cDNA Name c.357delC 
Protein Name p.Ile119MetfsX5 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 489delC 
Other Details A premature stop codon appears four codons further. The parents are first cousins and originate from Mauritania (Africa). 
Contributors E. Girodon, F. Niel, V. Pingault, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details This mutation was identified at the homozygous state in a 6 yrs old girl having a classical form of CF. Sweat chloride value: 92 mEq/l. 

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The Database was last updated at Apr 25, 2011