Mutation Details for c.1471T>C
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cDNA Name
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c.1471T>C
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Protein Name
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p.Cys491Arg
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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C491R
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Other Details
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This misense has been found in a CF patient of North African origin with [delta]F508 on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
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Contributors
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Chevalier-Porst F,
Bozon D
1998-07-13
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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This individual (M) is 17y. No clinical information is available for this man.
DeltaF508 was found on the other allele.
(Pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon (NL#70)
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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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