Mutation Details for c.4039_4040insA
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cDNA Name
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c.4039_4040insA
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Protein Name
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p.Ser1347LysfsX12
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4171insA
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Other Details
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The mutation was identified in the mother of a CF child, deceased at 17 years.
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Contributors
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E. Girodon, M. Legendre, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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No available phenotypic data on the deceased CF patient.
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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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