Mutation Details for c.3160C>G
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cDNA Name
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c.3160C>G
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Protein Name
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p.His1054Asp
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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H1054D
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Other Details
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A nucleotide change, A->G at position 3293 was detected in exon 17b leading to H1045R The patient is 45 years old. The other chromosome carries the [delta]F508 mutation.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Mercier B,
Audrezet MP,
Guillermit H
1992-05-14
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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 French CF patient (male, 42y),was diagnosed at 27y, is PS, FEV1=80% and elevated sweat-chloride levels (116mM/l). DeltaF508 was found on the other allele. (Ferec et al. 1993 and pers. corr. Ferec)
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Reference
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FĂ©rec et al. 1993
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