Mutation Details for c.164+1G>T
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cDNA Name
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c.164+1G>T
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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296+1G->T
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Other Details
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This mutation was detected in a 19 year old male by multiplex heteroduplex analysis on the MDE gel matrix.
The patient was also heterozygous for the [delta]F508 mutation and has the R75Q polymorphism.
Clinical: Pancreatic insufficient.
Note: The 196+1G->C mutation was previously reported by Tzetis et al.
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Contributors
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Walker C,
Tsui L-C,
Zielenski J,
Brown NE
2000-08-21
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Institute
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Hospital for Sick Children
Toronto, Canada
University of Alberta Hospitals
Edmonton, Canada
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Submitted Phenotype Details
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Reference
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Walker et al. 2000
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