Mutation Details for c.3368-50A>C

cDNA Name c.3368-50A>C 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3500-50 A/C 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. This variation was not found in 1500 non CF chromosomes tested. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details This mutation has been identified in four patients who take part to a carrier screening program; they have a partner with CF mutation. This variation was not found in 1500 non CF chromosomes tested. 
Reference  

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The Database was last updated at Apr 25, 2011