Mutation Details for c.3982_3984delATAinsTT

cDNA Name c.3982_3984delATAinsTT 
Protein Name p.Ile1328LeufsX? 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4114ATA->TT 
Other Details  
Contributors    1993-01-01
Submitted Phenotype Details The patient (male, 2y) was diagnosed with CF at 2 months. He is PI, has moderate lung disease and sweat chloride 100-110 mmol/l. (pers.corr.Doerk) 
Reference Dörk et al. 1993c 

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The Database was last updated at Apr 25, 2011