Mutation Details for c.228_229insT

cDNA Name c.228_229insT 
Protein Name p.Trp79LeufsX32 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 360-365insT 
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 Hispanic female patient, diagnosed at 10 months of age; pancreatic sufficient, sweat chloride level was 84mmol/L; FEV 62%; FVC 84%. The other mutant allele is G542X. 

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The Database was last updated at Apr 25, 2011