Mutation Details for c.609C>G
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cDNA Name
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c.609C>G
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Protein Name
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p.Ile203Met
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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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I203M
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Other Details
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This mutation was identified on one French CBAVD chromosome.
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Contributors
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Claustres M, Altieri JP, Guittard C
2004-09-23
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Institute
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Laboratoire de Genetique Moleculaire, IURC<p>
641, Av. du Doyen Gaston Giraud<p>
34093 Montpellier Cedex 5, France
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Submitted Phenotype Details
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This missense mutation was found in a patient referred for CBAVD and carrying the mutation c.1248+1G>A. Parental DNA was not available for familial segregation.
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Reference
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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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