Mutation Details for c.4425G>A

cDNA Name c.4425G>A 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name 4557 G/A 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We 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 The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population. 
Submitted Phenotype Details The change was found in the asymptomatic wife, from North Italy, of a CF carrier. 
Reference  

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