Mutation Details for c.160G>T

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

cDNA Name c.160G>T 
Protein Name p.Glu54X 
Exon or Intron  
Other Details Bulgarian ethnic origine 
Contributors and Institutes
Medical University Sofia, Bulgaria. National genetic laboratory. -
Submitted Phenotype Details Typical findings of cystic fibrosis. Lung involvement, elevated chloride values, fail to thrive and pancreatic insufficiency.  

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The Database was last updated at Apr 25, 2011