Mutation Details for c.327T>A

cDNA Name c.327T>A 
Protein Name p.Tyr109X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y109X 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The mutation was found in a 3y F diagnosed at 2w, PI, with severe lung disease, positive sweat chloride. The patient was from Cameroun, and carried Y109X on the other allele. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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