Mutation Details for c.2230C>T

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

cDNA Name c.2230C>T 
Protein Name p.Gln744X 
Exon or Intron  
Other Details  
Contributors and Institutes error reading database  
Submitted Phenotype Details First developed pancreatitis with abdominal pain at the age of 19years with elevated amylase levels. Recurrent admissions and an USS which showed gallstones and resulted in cholecystectomy. Continued to have abdominal fullness and had right hemicolectomy which showed impacted faeces unable to wash through, appendix dilated and no marked chronic inflammatory cells. This raised as possible diagnosis as cystic fibrosis. His sweat test was positive but genotype screen negative. He has had no chest symptoms at this time 

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The Database was last updated at Apr 25, 2011