Mutation Details for c.3193C>T

cDNA Name c.3193C>T 
Protein Name p.Leu1065Phe 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1065F 
Other Details This mutation was detected by DGGE and direct sequencing. L1065F was found once (1/ 500chromosomes) in a male CF patient of Greek origin; his other CF mutation is [delta]F508. The patient is PI.  
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1998-02-02
Institute St. Sophia's Children's Hospital, Athens, Greece 
Submitted Phenotype Details This mutation was found in two patients. 1. Patient (M) is 11, has PS, FEV1=94%, sweat-chloride levels of 76mEq/l and nasal polyps. 621+1G>T was found on the other allele. 2. Patient (M) is 6, has PI, severe lung disease, sweat-chloride levels of 100mEq/l and Pseudomonas infecions. DeltaF508 was found on the other allele. (Pers. corr. Tzetis) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011