Mutation Details for c.2036G>A
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cDNA Name
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c.2036G>A
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Protein Name
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p.Trp679X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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W679X
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Other Details
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The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. The patient was also heterozygous for the [delta]F508 mutation.
The patient was pancreatic sufficient.
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Contributors
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Walker C,
Tsui L-C,
Zielenski J
1999-09-27
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Institute
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The Hospital for Sick Children
Toronto, Canada
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Submitted Phenotype Details
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No additional clinical info available. (pers. corr. Zielenski)
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Reference
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Walker et al. 1999
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