Mutation Details for c.165-73A>G

cDNA Name c.165-73A>G 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-73 A/G 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 1500 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. 

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The Database was last updated at Apr 25, 2011