Mutation Details for c.1826A>G
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cDNA Name
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c.1826A>G
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Protein Name
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p.His609Arg
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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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H609R
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing. H609R is not found in 100 other non-[delta]F508 CF chromosomes and 100 non CF chromosomes tested. The mutation creates an MaeII site. It was found in a CF patient originating from Columbia.
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Contributors
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Bienvenu T,
Bousquet S,
Vidaud D,
Keyeux G,
Beldjord C
1997-06-13
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Institute
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Laboratoire de Biochimie Génétique,
Pavillon Cassini,
Paris, France
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Submitted Phenotype Details
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No additional clinical info available. (pers. corr. Bienvenu)
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Reference
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Bienvenu 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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