Mutation Details for c.174_175insA
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cDNA Name
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c.174_175insA
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Protein Name
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p.Arg59LysfsX10
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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306insA
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Other Details
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A new mutation was identifeied by DGGE and direct sequencing: 306insA in exon 3. The patient is homzygous for this mutation. A consanguinity has been detected in this family.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet M-P,
Mercier B
1994-01-31
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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 French CF patient (female, 27y) is homozygous for 306insA. She is PI.
(pers.corr. Ferec)
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Reference
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Férec et al. (NL#61)
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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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