Mutation Details for c.618G>T
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cDNA Name
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c.618G>T
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Protein Name
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p.Leu206Phe
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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L206F
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Other Details
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We would like to report a novel mutation we have identified by DGGE and direct sequencing.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1997-02-14
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Institute
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University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was found in a Canadian CF patient (male, 44y) carrying 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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