Mutation Details for c.547C>A
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cDNA Name
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c.547C>A
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Protein Name
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p.Leu183Ile
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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L183I
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Other Details
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This mutation was found in a CBAVD Pakistani male, who also has the 5T allele (phase unknown).
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Contributors
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Pearson A, Shaw H, Hinks J, Malone G, Schwarz MJ
2005-04-21
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Institute
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National Genetics Reference Laboratory, Manchester, UK
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Submitted Phenotype Details
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CBAVD; Pakistani
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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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