Mutation Details for c.592G>C
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cDNA Name
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c.592G>C
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Protein Name
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p.Ala198Pro
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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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A198P
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Other Details
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The mutation was detected in a Chinese CBAVD patient by multiplex heteroduplex analysis on the MDE gel matrix.
The heterozygous patient had no other detectable CF mutations.
Clinical: CBAVD
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Contributors
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Walker C,
Tsui L-C,
Zielenski J
1999-12-09
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Institute
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Hospital for Sick Children
Toronto, Canada
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Submitted Phenotype Details
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Reference
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Walker et al. 1999
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