Mutation Details for c.327T>A
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cDNA Name
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c.327T>A
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Protein Name
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p.Tyr109X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y109X
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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 3y F diagnosed at 2w, PI, with severe lung disease, positive sweat chloride. The patient was from Cameroun, and carried Y109X 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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