Mutation Details for c.-9_14del23

cDNA Name c.-9_14del23 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 124del23bp 
Other Details Mutation is detected by TTGE and confirmed with sequencing. 
Contributors Alper Özgül, Wong LJC, Kharrazi M.   2003-07-13
Institute Institute for Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details  
Reference Hispanic male patient, diagnosed at 6 months of age, pancreatic insufficient, sweat chloride level of 92mmol/L, FEV 39%, FVC 48%, colonized with Staphylococcus aureus. The other mutant allele is R553X. 

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The Database was last updated at Apr 25, 2011