Mutation Details for c.2519T>C

cDNA Name c.2519T>C 
Protein Name p.Ile840Thr 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name I840T 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 1700 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The mutation was found in the asymptomatic wife, from Albania, of a CF carrier. 
Reference  

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The Database was last updated at Apr 25, 2011