Mutation Details for c.2421A>G
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cDNA Name
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c.2421A>G
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Protein Name
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p.Ile807Met
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2553A/G
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Other Details
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Ile or Met at 807
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B
1992-09-14
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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Reference
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Ferec et al. (NL#49)
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