Mutation Details for c.1801A>G

cDNA Name c.1801A>G 
Protein Name p.Ile601Val 
Exon or Intron  
Other Details  
Contributors and Institutes
Ruslan Dorfman - The Hospital for Sick Children, Toronto,
Peter Durie - The Hospital for Sick Children, Toronto,
Julian Zielenski - The Hospital for Sick Children, Toronto,
  
Submitted Phenotype Details This variant was identified in a population screening of patients with primary sclerosing cholangitis and inflammatory bowel syndromes. No other CFTR variants were identified in the carrier of this mutation. 
Reference  

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The Database was last updated at Apr 25, 2011