Mutation Details for c.2327C>G
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cDNA Name
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c.2327C>G
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Protein Name
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p.Ser776X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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S776X
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Other Details
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This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Suthern France. It does not modifiy any restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
1997-07-23
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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The 46-year old female CF patientis PS, has positive sweat chloride tests and severe lung disease. No other mutations were found. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#69)
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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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