Mutation Details for c.2044delA

cDNA Name c.2044delA 
Protein Name p.Thr682GlnfsX40 
Exon or Intron exon 14 
Other Details  
Contributors and Institutes
Krenkova P. - Departement of Biology and Medical Genetics, Cystic Fibrosis Centre
Balascakova M. - Departement of Biology and Medical Genetics, Cystic Fibrosis Centre
Piskackova T. - Departement of Biology and Medical Genetics, Cystic Fibrosis Centre
Macek Jr. M. - Departement of Biology and Medical Genetics, Cystic Fibrosis Centre
  
Submitted Phenotype Details Czech female patient, diagnosed at 3.5 years of age, at 2 years rectal prolapse. Sweat chloride level 79,4...89,8 mmo/l, PI, clubbing fingers, bronchiectasy, air trapping (on HRCT), colonized with Pseudomonasis aeruginosa. The other mutant allele is p.F508del 
Reference  

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The Database was last updated at Apr 25, 2011