Mutation Details for c.2591_2592delTT

cDNA Name c.2591_2592delTT 
Protein Name p.Ile864MetfsX31 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2723delTT 
Other Details The mutation was found once in a patient of Serbian origin. Patient data: Genotype: [delta]F508/2723delTT Age at diagnosis: since birth Current age: 9 months Chloride sweat test: 100-113mmol/L The patient is PI since 6th month of age, with chronic cough. 
Contributors Antoniadi T, Tzetis M, Kanavakis E   1996-12-12
Institute Athens University, First Dept of Pediatrics Unit of Molecular Medicine St. Sophias Children Hospital Athens, Greece 
Submitted Phenotype Details The mutation was found in a 9 months old male CF patient, diagnosed at 4 months of age. He is PI, has severe pulmonary symptoms with pneumonia and areas of atelectasis and sweat chloride 88 mmol/l. (pers. corr. Tzetis) 
Reference Antoniadi et al. (NL#69) 

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The Database was last updated at Apr 25, 2011