Mutation Details for c.2215delG

cDNA Name c.2215delG 
Protein Name p.Val739TyrfsX16 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2347delG 
Other Details A novel frameshift mutation 2347 delG, in exon 13, was detected in a French CF patient. The patient is pancreatic insufficient and carries [delta]F508 on the other chromosmome. 2347 delG was not found on further 50 non-[delta]F508 CF chromosomes. This mutation is predicted to shift the reading frame of the protein and introduces a terminator codon (UGA) at amino acid position 754. 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-06-07
Institute Hopitaux de Paris Paris, France 
Phenotype Information CFTR2
Reference Bienvenu et al. (NL#63) 

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