Mutation Details for c.274-13T>C

cDNA Name c.274-13T>C 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 406-13T/C 
Other Details Located in the polypyrimidine tract of acceptor splice site of intron 3. We report it as a polymorphism. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details 406-13T/C was found in a 73 year old female patient also carrying N782K on the other allele. She was diagnosed at 37y with primary sclerosing cholangitis, inflammatory bowel disease. She is PS. 406-13T/C is considered as a polymorphism. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011