Mutation Details for c.380T>G
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cDNA Name
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c.380T>G
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Protein Name
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p.Leu127X
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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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L127X
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Other Details
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The above mutation was found once by DGGE and DNA sequencing.
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Contributors
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Férec C,
Verlingue C,
Mercier B,
Quere I
1995-12-27
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Institute
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Centre de Transfusion Sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The Tunisian CF patient is homozygous for L127X.
(pers. corr. Ferec)
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Reference
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Férec et al. (NL#67)
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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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