Mutation Details for c.1196C>T
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cDNA Name
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c.1196C>T
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Protein Name
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p.Ala399Val
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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A399V
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Other Details
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This mutation was detected in one of the CFTR alleles of a 15-year old Japanese female patient with disseminated bronchiectasis. She is pancreatic sufficient, and her sweat chloride level was normal (27 mmol/L), and no other CFTR mutation was found despite the extensive search.
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Contributors
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Yoshimura K,
Azuma A
2000-02-02
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Institute
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Department of Gene Therapy
Institute of DNA Medicine
Jikei University School of Medicine
Tokyo, Japan
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Submitted Phenotype Details
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Patient (F) is 14y, has PS, moderate lung disease (diffuse bronchiectasis), sweat-chloride is 10.7mM/l.
No other mutations were found.
(pers. corr. Yoshimura)
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Reference
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Yoshimura & Azuma 2000
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