Mutation Details for c.4375A>A

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

cDNA Name c.4375A>A 
Protein Name p.Lys1459Lys 
Exon or Intron exon 27 
Other Details  
Contributors and Institutes
Dr. S.W.J. Terheggen-Lagro - UMCU
Department of Pediatric Pulmonology - Lundlaan 6
3584 CX Utrecht - the Netherlands
Submitted Phenotype Details Obstructive lung disease with recurrent infections and bronchiectases. Pacreatic sufficient. No signs of liver abnormality 

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