Mutation Details for c.653T>A
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cDNA Name
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c.653T>A
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Protein Name
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p.Leu218X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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L218X
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Other Details
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The mutation was detected by heteroduplex analysis. It was found in a Pakistani CF patient. The second mutation: unknown.
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Contributors
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Zielenski J,
Markiewicz D,
Tsui L-C
1996-10-07
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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 homozygous CF patient is PI, with sweat chloride >100 mmol/l. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#69)
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