Mutation Details for c.2634_2641delGGTTGTGC
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cDNA Name
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c.2634_2641delGGTTGTGC
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Protein Name
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p.Leu878PhefsX15
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Exon or Intron
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exon 16
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Legacy Exon or Intron
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exon 14b
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2766del8
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Other Details
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A novel mutation was found in 5 CF chromsomes from a sample of Tunisian CF patients. The mutation is a deletion of 8 nucleotides in exon 14b (2766 del8 [GTT GTG CT]). This could correspnd to a non rare mutation in this population as we have found 5 mutated chromosmes in 60.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Mercier B
1994-10-19
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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 found in 5 CF chromsomes from a sample of Tunisian CF patients.(pers.corr. Ferec)
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Reference
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Férec et al. (NL#63)
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