Mutation Details for c.1392+60_1392+61insA

cDNA Name c.1392+60_1392+61insA 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1524+60 insA 
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 husband (carrying 1716 a/g polymorphisms on the other allele), from North-East Italy, of a CF carrier. 
Reference  

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The Database was last updated at Apr 25, 2011