Mutation Details for c.3639delA

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3639delA 
Protein Name p.Asp1214IlefsX14 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Mona El Falaki – Cairo University, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Mutation found in 4 year old egyptian patient, respiratory manifestation, GIT, sweat test 71 mmol/L 

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