Mutation Details for c.247_248insT

cDNA Name c.247_248insT 
Protein Name p.Tyr84LeufsX27 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 379-381insT 
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 male patient, diagnosed at 3 months of age; pancreatic insufficient; sweat chloride level was 79mmol/L; colonized with Staphylococcus aureus. The other mutant allele is delta F508. 

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The Database was last updated at Apr 25, 2011