Mutation Details for c.494T>C
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cDNA Name
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c.494T>C
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Protein Name
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p.Leu165Ser
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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L165S
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Other Details
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The patient is 20 years old, pancreatic insufficient, and the second chromosome carries the [delta]F508.
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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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Submitted Phenotype Details
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The patient (male, 33y) is a PS French CF patient who also carries deltaF508 on the other allele. (pers. corr. Ferec)
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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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