Mutation Details for c.274-1G>T
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cDNA Name
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c.274-1G>T
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-1G->T
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Other Details
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This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This mutation destroys a EcoNI restriction site. This mutation has been found in one among 149 non-[delta]F508 chromosomes. The patient has [delta]F508 on the other chromosome.
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Contributors
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Bienvenu T,
Fonknechten N,
Desclauz-Arramond F,
Kaplan JC,
Beldjord C
1993-04-30
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The mutation was found in a female CF patient carrying deltaF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL #55)
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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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