Mutation Details for c.2052dupA

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

cDNA Name c.2052dupA 
Protein Name p.Gln685ThrfsX4 
Exon or Intron  
Other Details Other mutation is dF508 
Contributors and Institutes
George B. Mallory Jr. - Texas Children's Hospital
Submitted Phenotype Details Patient who had recent lung and liver transplant and then had an episode of pancreatitis.  
Reference none 

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The Database was last updated at Apr 25, 2011