Mutation Details for c.274-13T>C
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cDNA Name
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c.274-13T>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-13T/C
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Other Details
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Located in the polypyrimidine tract of acceptor splice site of intron 3. We report it as a polymorphism.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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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)
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Reference
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Girodon et al. 1999
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