Mutation Details for c.1116+31A>C

cDNA Name c.1116+31A>C 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1248+31 A/C 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, 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 This mutation has been identified in two patients who take part to a carrier screening program; they both have a partner with CF mutation. 

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The Database was last updated at Apr 25, 2011