Mutation Details for c.409_412delCTCC
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cDNA Name
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c.409_412delCTCC
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Protein Name
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p.Leu137TyrfsX15
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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541del4
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Other Details
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A deletion of 4 nucleotides was identified in exon 4 : 541 del CTCC. The other chromosome carries a [delta]I507. The patient is pancreatic insufficient with a severe form of the disease. The patient is of French origin.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-02-19
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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 French CF patient (male, 22y) is PI and has severe lung disease. He carries DeltaI507 on the other allele.
(pers. corr. Ferec)
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Reference
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Férec et al. (NL#53)
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