Mutation Details for c.3125A>G

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

cDNA Name c.3125A>G 
Protein Name p.Gln1042Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
Division of Gastroenterology - Johns Hopkins Medical Institutions, Baltimore, MD
Submitted Phenotype Details 29-year-old male of Indian origin acute recurrent and chronic calcific pancreatitis since age of 18 years symptoms and/or findings of cystic fibrosis (eg, recurrent sinopulmonary infections, infertility, etc) 
Reference PMID:24326373 

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The Database was last updated at Apr 25, 2011