Mutation Details for c.2815C>G
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cDNA Name
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c.2815C>G
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Protein Name
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p.His939Asp
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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H939D
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Other Details
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This mutation was identified by DGGE and direct sequencing. The other mutation is still unidentified.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-03-23
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Institute
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Centre de Tranfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was found in a French CF patient (male) diagnosed at 5 years, having sweat chloride 45-68 mmol/l and mild pulmonary disease.
(pers.corr. Ferec)
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Reference
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Férec et al. (NL#54)
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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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