Mutation Details for c.490-16T>C

cDNA Name c.490-16T>C 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 622-16 T/C 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. This variation was not found in 1000 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 It was found in the mother of a fetus having hyperechogenic bowel, no mutation was found to the father after scanning all CFTR exons. There was no family history of CF. 

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The Database was last updated at Apr 25, 2011