Mutation Details for c.2089_2090insA

cDNA Name c.2089_2090insA 
Protein Name p.Arg697LysfsX33 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2221insA 
Other Details The mutation was identified in a CBAVD patient who was also found to carry two CFTR variants, IVS8T5 and 1716A->G. Segregation analysis was not possible. 
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Isolated CBAVD 

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The Database was last updated at Apr 25, 2011