Mutation Details for c.744-8A>C

cDNA Name c.744-8A>C 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 876-8 A->C 
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 change was found in the asymptomatic husband, from North-East Italy, of a CF carrier. 

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