Mutation Details for c.3871C>T
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cDNA Name
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c.3871C>T
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Protein Name
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p.Gln1291X
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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Q1291X
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Other Details
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This mutation have been identified by DGGE and sequencing. It have been observed in a CF patient ([delta]F508/Q1291X) with a pancreatic insufficient form.
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Contributors
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Feldmann D,
Magnier C,
Laroze F,
Chauve C
2000-03-17
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Institute
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Laboratoire de Biochimie
Hopital A. Trousseau,
Paris, France
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Submitted Phenotype Details
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The mutation was found in a 23 years old male patient diagnosed at 3 years of age, PI, with severe lung disease and Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele.(pers. corr. Feldmann)
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Reference
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Feldmann et al. 2000
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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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