Mutation Details for c.659A>G
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cDNA Name
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c.659A>G
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Protein Name
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p.Gln220Arg
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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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Q220R
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Other Details
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Found in a patient with CBAVD.
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Contributors
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Férec C
1998-12-23
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a patient with CBAVD. (pers.corr. Ferec)
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Reference
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Férec 1998
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