Mutation Details for c.3719T>G
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cDNA Name
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c.3719T>G
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Protein Name
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p.Val1240Gly
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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V1240G
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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 patient with lung disease and pancreatic insufficiency. [delta]F508 was found on the other chromosome.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C
Hughes D
1999-06-07
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Institute
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The Hospital for Sick Children
Toronto, Canada
IWK Grace Health Center
Halifax, Nova Scotia,
Canada
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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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