Mutation Details for c.1679+1G>A

cDNA Name c.1679+1G>A 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1811 + 1 G>A 
Other Details  
Contributors Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson,Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert,Phyllis Gardner,E.Robert Wassman,Anja Kammesheidt   2006-03-16
Institute Stanford School of Medicine, Stanford Ambry Genetics Corporation, Irvine  
Submitted Phenotype Details Patient is a 44 year old male with positive sweat chloride levels. The second mutation was not identified. 

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