Mutation Details for c.1465_1468delTCAT

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

cDNA Name c.1465_1468delTCAT 
Protein Name p.Phe490ValfsX36 
Exon or Intron  
Other Details  
Contributors and Institutes
Andrei Constantinescu, MD, PhD - Children's Hospital of NY - Columbia
Submitted Phenotype Details Sweat chloride 93 Pancreatic sufficient Recurrent pancreatitis Never Pseudomonas aeruginosa; usually grows MRSA Normal FVC, FEV1 Mild exacerbations 1-2/year responsive to oral antibiotics  

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The Database was last updated at Apr 25, 2011