Mutation Details for c.4039_4040insA

cDNA Name c.4039_4040insA 
Protein Name p.Ser1347LysfsX12 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4171insA 
Other Details The mutation was identified in the mother of a CF child, deceased at 17 years. 
Contributors E. Girodon, M. Legendre, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details No available phenotypic data on the deceased CF patient. 

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The Database was last updated at Apr 25, 2011