Mutation Details for c.3648A>C

cDNA Name c.3648A>C 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3780 A/C 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population. 
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 The change was found in the asymptomatic wife, from North Italy, of a CF carrier. The CFTR test is performed in a couple attempting assisted reproductive techniques.  
Reference  

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The Database was last updated at Apr 25, 2011