Mutation Details for c.2279C>T
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cDNA Name
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c.2279C>T
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Protein Name
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p.Thr760Met
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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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T760M
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Other Details
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This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in a CF patient with moderate lung disease, pancreatic insufficiency and sweat chlorides of 100. The patient had 1677delTA on the same chromosome and [delta]F508 on the other.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C
Rawashdeh M,
Khateeb
1999-06-07
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Institute
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The Hospital for Sick Children
Toronto, Canada
Jordan University of Science &
Technology
Aman, Jordan
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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