Mutation Details for c.1679+2t>C

cDNA Name c.1679+2t>C 
Exon or Intron intron 12 
Other Details  
Contributors and Institutes
Schwarz MJ - St Mary's Manchester
Brock JL - St Mary's Manchester
Submitted Phenotype Details Late diagnosis of CF in a ten year-old boy; positive sweat tests; recurrent chest infections; clubbing; history of abd pain and constipation 

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