Mutation Details for c.1516A>G
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cDNA Name
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c.1516A>G
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Protein Name
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p.Ile506Val
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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I506V (1648A/G)
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Other Details
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The mutation was previously reported as a polymorphism - Kobayashi et al. 1990; Vidaud et al. per.comm.
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Contributors
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Ferec C., 2002
1990-01-01
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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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The mutation was identified in a CF carrier. (pers. corr. Ferec)
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Reference
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Kobayashi et al. 1990; Vidaud et al. per.comm.
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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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