Mutation Details for c.2620-1G>C

cDNA Name c.2620-1G>C 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2752-1G->C 
Other Details This mutation creates a new BsaA I cutting site. This novel mutation is associated with a [delta]F508 in a cystic fibrosis patient.  
Contributors Dubourg C, Blayau M   1999-03-26
Institute Laboratoire de Génétique Moléculaire Rennes, France 
Submitted Phenotype Details  
Reference Dubourg & Blayau 1999 

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