Mutation Details for c.3140-42G>T

cDNA Name c.3140-42G>T 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-42 G/T 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. This variation was not found in 1500 non CF chromosomes tested. 
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 mutation was found in the asymptomatic wife, from South Italy, of a CBAVD patients (N1303K/D110H) with sweat test of 100 mmol/L chloride. 

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The Database was last updated at Apr 25, 2011