Mutation Details for c.1196C>T
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cDNA Name
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c.1196C>T
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Protein Name
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p.Ala399Val
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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I1328T
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Other Details
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This mutation was present in a CBAVD patient in conjunction with R347P
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Contributors
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Huang Q, Yuan XW and Zielenski J
2008-07-11
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Institute
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Department of Genetics and Genome Biology
The Hospital for Sick Children, Toronto, Canada
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Submitted Phenotype Details
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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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