Mutation Details for c.2597G>A
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cDNA Name
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c.2597G>A
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Protein Name
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p.Cys866Tyr
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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C866Y
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Other Details
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This mutation was found on one CF chromosome while screening that exon with DGGE and following DNA sequencing. The other mutation is at this time unidentified.
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Contributors
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Audrezet MP,
Guillermit H,
Mercier B,
Quere I,
Verlingue C,
Ferec C
1991-12-31
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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 patient with echogenic bowel. (pers.corr. Ferec)
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Reference
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Audrézet et al. (NL#41)
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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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