Mutation Details for c.3368-1G>A

cDNA Name c.3368-1G>A 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3500 -1 G to A 
Other Details  
Contributors Jennifer King & Mutasim Abu-Hasan   2006-07-26
Institute University of Iowa 
Submitted Phenotype Details The patient, a 32-month-old male, was diagnosed with cystic fibrosis at 2 months of age following respiratory symptoms and steatorrhea. He has pancreatic insufficiency, and his sweat chloride was 134 mEq/L. The patient also has a delta F508 mutation on his other chromosome. 
Reference  

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The Database was last updated at Apr 25, 2011