Mutation Details for c.3841C>T
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cDNA Name
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c.3841C>T
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Protein Name
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p.Gln1281X
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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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Q1281X
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Other Details
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The above mutation, Q1281X, was detected by DGGE and direct sequencing. The CF patient is a 10-year old girl who carries [delta]F508 on the maternal allele. She presents severe lung disease and pancreatic insufficiency.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill X
1996-01-25
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Institute
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IRO,
Spain
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Submitted Phenotype Details
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The mutation was found in a 11 years old female CF patient diagnosed at 2 months of age, PI, FEV1 47%, PA colonization and bronchiectasis, sweat chloride 110 mmol/l. DeltaF508 was found on the other allele. (pers. corr. Casals and Casals et al. 1997)
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Reference
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Casals et al. (NL#68)
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