Mutation Details for c.396T>G
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cDNA Name
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c.396T>G
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Protein Name
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p.Ile132Met
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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I132M
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Other Details
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Found in the wife of a CBAVD patient. It is unclear if the change is a polymorphism or missense mutation.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1997-06-03
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Institute
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Laboratoire de Biogénétique
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Submitted Phenotype Details
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No additional clinical info available. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#69)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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