Mutation Details for c.1220A>T
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cDNA Name
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c.1220A>T
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Protein Name
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p.Glu407Val
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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E407V
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Other Details
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The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Canadian CF patient (second mutation: unknown).
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Lands L
1999-03-04
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Institute
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The Hospital for Sick Children,
Toronto, Canada
The Montreal Children's Hospital,
Montreal, 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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