Mutation Details for c.80delG
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cDNA Name
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c.80delG
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Protein Name
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p.Gly27AspfsX64
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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211delG
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Other Details
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This mutation was identified on one French CF chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP
Mercier B
1994-07-19
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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 female patient (deceased) who carried DeltaF508 on the other allele.
(pers.corr. Ferec)
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Reference
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Férec et al. (NL#63)
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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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