Mutation Details for c.221G>A

cDNA Name c.221G>A 
Protein Name p.Arg74Gln 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name R74Q 
Other Details This mutation was seen in a patient with chronic pancreatitis (referred by Dr Joan Braganza of the Manchester Pancreato-Biliary Service) whose other chromosome has had no mutation identified mutation. We have seen this mutation only once in over 50 chronic pancreatitis chromosomes screened. 
Contributors Malone G, Andrew N, Busby L, Schwarz M   2000-02-01
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient carries R297Q on the other allele and has chronic pancreatitis. (pers.corr. Schwarz) 
Reference Malone et al. 2000 

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