Mutation Details for c.3406G>A

cDNA Name c.3406G>A 
Protein Name p.Ala1136Thr 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name A1136T 
Other Details This mutation was found in a patient with pancreatitis. 
Contributors Férec C   2000-09-22
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in a patient (male) with pancreatitis, carrying E217G on the other allele. (pers. corr. Ferec) 
Reference Férec 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