Mutation Details for c.1674delA
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cDNA Name
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c.1674delA
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Protein Name
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p.Ala559GlnfsX13
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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1806delA
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Other Details
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This mutation was identified by DGGE and direct sequencing. This nucleotide change was observed in one French CF chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Raguenes O,
Guillermit H,
Mercier B
1993-06-07
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a French CF patient (female, 8y) diagnosed at birth, carrying deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#59)
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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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