Mutation Details for c.4114C>A
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cDNA Name
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c.4114C>A
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Protein Name
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p.Pro1372Thr
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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P1372T
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The mutation was found in a 11y F, diagnosed at 10y, PS, with severe lung disease (bronchiectasis) and discordant sweat chloride. The patient comes from Southern Italy and carries deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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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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