Mutation Details for c.4071_4073delTAGinsAA

cDNA Name c.4071_4073delTAGinsAA 
Protein Name p.Ala1357LeufsX? 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4203TAG->AA 
Other Details This frameshift mutation leads to a modification of the following 21 amino acids and to a stop codon at codon 1380 in exon 23. It was found in a male patient having a classical form of CF and carrying [delta]F508 on the other chromosome. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details 4203TAG->AA was found in a 12y M diagnosed at 17m, PI, with severe lung disease and positive sweat chloride. he carries deltaF508 on the other allele.(pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011