Mutation Details for c.3922G>T
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cDNA Name
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c.3922G>T
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Protein Name
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p.Glu1308X
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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E1308X
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Other Details
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Found in the CFTR gene by DGGE and DNA sequencing.
(CF patient, genotype E1308X/G542X)
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1997-01-21
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The French CF patient carries G542X on the other allele. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#69)
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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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