Mutation Details for c.3158C>T
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cDNA Name
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c.3158C>T
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Protein Name
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p.Thr1053Ile
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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T1053I
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. This putative mutation was found in a CBAVD patient from France. He also has the [delta]F508 mutation and the 5T allele (5/9).
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Contributors
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Bienvenu T,
Bousquet S,
Beljord C
1998-12-31
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Institute
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Assistance Publique Hopitaux de Paris, France
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Submitted Phenotype Details
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The 31-year old male patient was diagnosed at 27 y with CBAVD. He is PS and has normal lung function. he carries deltaF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (1998)
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