Mutation Details for c.3829delA

cDNA Name c.3829delA 
Protein Name p.Ile1277X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3960-3961delA 
Other Details Mutation is detected by TTGE and confirmed with sequencing. 
Contributors Alper Özgül; Wong LJC, Kharrazi M.,   2003-05-01
Institute Institute for Molecular and Human Genetics, Georgetown University Medical Center  
Submitted Phenotype Details The Hispanic male patient diagnosed at 5 months of age, pancreatic insufficient, sweat chloride level was 100mmol/L; FEV 83%; FVC 96%, colonized with Pseudomonas aeruginosa, Aspergillus terretus. The other mutant allele is unidentified. 

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The Database was last updated at Apr 25, 2011