Mutation Details for c.2816A>G
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cDNA Name
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c.2816A>G
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Protein Name
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p.His939Arg
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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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H939R
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Other Details
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Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/H939R)
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1996-12-30
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Institute
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Laboratoire de Biogénétique,
University of Brest,
Brest, France
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Submitted Phenotype Details
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The mutation was found in a French CF patient (male, 17y) PS, with moderate lung disease and sweat chloride 106 mmol/l. He carries deltaF508 on the other allele.(pers.corr. Ferec)
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Reference
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Férec 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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