Mutation Details for c.254G>T
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cDNA Name
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c.254G>T
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Protein Name
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p.Gly85Val
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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G85V
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Other Details
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The patient with G85V carried G542X on the other chromosome, and presented mild phenotype with PI.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill X
1995-08-03
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Institute
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IRO,
Spain
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Submitted Phenotype Details
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One patient (18y, male) diagnosed at 3y, PI, severe lung disease (FEV1=32%).
G542X was found on the other allele.
This mutations was found in 5 other CF patients.
(Pers. corr. Casals; Casals et al. 1997)
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Reference
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Casals et al. (NL#67)
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