Mutation Details for c.-347g>A

cDNA Name c.-347g>A 
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. The novel variant c.3139+193_c.3139+198delTAAT was found in the same individual. 
Reference  

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The Database was last updated at Apr 25, 2011