Mutation Details for c.4058delT

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

cDNA Name c.4058delT 
Protein Name p.Leu1353X 
Exon or Intron  
Other Details  
Contributors and Institutes
Andrei Constantinescu, MD, PhD - Children's Hospital of NY - Columbia University Medical Center
Submitted Phenotype Details Sweat chloride 112 mEq/L Pancreatic insufficient. Bronchiectasis at age 17 yrs. Pseudomonas aeruginosa acquired and treated; negative cultures for 8 years. 

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The Database was last updated at Apr 25, 2011