Mutation Details for c.111_112delAT
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cDNA Name
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c.111_112delAT
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Protein Name
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p.Tyr38ProfsX6
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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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241delAT
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Other Details
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This mutation was discovered by denaturing gradient gel analysis. It was found once among 31 [delta]F508, 63 CF non-[delta]F508 and 37 normal chromosomes analysed.
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Contributors
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Fanen P,
Ghanem N,
Goossens
1991-04-30
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The 241delAT was found in a 17y male Cf patient, diagnosed when 3y old, PI, with moderate lung disease and positive sweat chloride. He carries deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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