Mutation Details for c.490-152G>C

cDNA Name c.490-152G>C 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 622-152G/C 
Other Details The polymorphism was detected by SSCP analysis and direct sequencing. The polymorphism removes a site for DdeI. It was found in a patient affected with chronic pancreatitis, no other mutation has been identified. 
Contributors Arduino C, Ferrone M, Brusco A, Piana M R, Migone N   1998-11-11
Institute U.O. Genetica Medica Torino, Italy 
Submitted Phenotype Details  
Reference rduino et al. 1998 

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The Database was last updated at Apr 25, 2011