Mutation Details for c.3870A>G
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cDNA Name
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c.3870A>G
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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P1290P (4002A/G)
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Other Details
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no change (Pro at 1290)
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Contributors
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Ferec C,
Guillermit H,
Quere I,
Verlingue
1991-05-10
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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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P1290P was reported as polymorphism. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#34); Ivaschenko et al. 1993
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