Mutation Details for c.1680-5T>A

cDNA Name c.1680-5T>A 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1812-5 T->A 
Other Details We have scanned the entire coding sequences of the CF gene with DHPLC and 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 husband, from North-East Italy, of a CF carrier. He carries R75Q on the other allele. 

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The Database was last updated at Apr 25, 2011