Mutation Details for c.2491G>T
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cDNA Name
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c.2491G>T
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Protein Name
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p.Glu831X
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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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E831X
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Other Details
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The nucleotide change G->T at position 2623 in exon 14a leads to E831X. The second chromosome carries a G551D mutation. The patient is 10 years old, and PI.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B
1992-12-23
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Férec et al. (NL#51)
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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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