Mutation Details for c.3822G>A
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cDNA Name
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c.3822G>A
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Protein Name
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p.Trp1274X
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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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W1274X
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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 Candian CF patient (second mutation: [delta]F508);
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Contributors
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Zielenski J,
Tzountzouris J,
Sweezey N,
Tsui L-C
1999-03-04
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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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The mutation was found in a male CF patient, PI, with mild pulmonary symptoms, sweat chloride 92 mmol/l also carrying deltaF508 on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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