Mutation Details for c.3393_3395delTAT

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

cDNA Name c.3393_3395delTAT 
Protein Name p.Ile1132del 
Exon or Intron  
Other Details Individual also carriers c.1584G>A variant. 
Contributors and Institutes
Dr. Patrick Scott, University of Alberta Hospital, Edmonton, AB -
Submitted Phenotype Details Dx at birth with meconium ilius. Sweat chloride test -115. Pancreatic sufficient.  

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The Database was last updated at Apr 25, 2011