Mutation Details for c.2619+2T>A

cDNA Name c.2619+2T>A 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2751+2T->A 
Other Details The above mutation was found in a 14 month old patient with sweat chloride of 85.7 mEq/L, PI since birth, chronic cough, S-K: 90, and CRX: 22. It was found once among 500 chromosomes screened. The other mutant allele in this patient was [delta]F508. 
Contributors Antoniadi Th, Tzetis M, Kanavakis E   1996-03-07
Institute First Department of Pediatrics, Athens University, Greece 
Submitted Phenotype Details The mutation was found in a 5 years old male CF patient diagnosed at birth with meconium ileus. He has severe lung disease with Pseudomonas Aeruginosa and Staph. Aureus infections, is PI and has sweat chloride 85.7 mmol/l.(Tzetis et al. 2001) 
Reference Antoniadi et al. (NL#68) 

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The Database was last updated at Apr 25, 2011