Mutation Details for c.1392+68G>A

cDNA Name c.1392+68G>A 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1524+68 G/A 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. 
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 four patients who take part to a carrier screening program; they have a partner with CF mutation. This variation was not found in 1500 non CF chromosomes tested. 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011