Mutation Details for c.3257C>T
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cDNA Name
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c.3257C>T
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Protein Name
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p.Thr1086Ile
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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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T1086I
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Other Details
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T1086I was found in a 34-year old, CF adult female patient with PI, moderate pulmonary disease and sweat Cl of 113 mEq/L and unknown CFTR mutation on her other chromosome; it was not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1995-12-15
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Institute
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Groupe Hôspitalier Cochin,
Paris
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Submitted Phenotype Details
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One patient (male, 42) diagnosed at 10y, PI, moderate lung disease, sweat chloride 113mmol/l. Unknown other mutation. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al (NL#67)
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