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 
Reference  

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The Database was last updated at Apr 25, 2011