Mutation Details for c.607A>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.607A>T
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Protein Name
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p.Ile203Phe
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Exon or Intron
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Other Details
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The second mutation (c.3635delT, p.Val1212AlafsX16) in this patient is also absent in CFTR1 database, which will also be submitted later.
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Contributors and Institutes
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| 1. Keqiang Liu | - | McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College | | 2. Yaping Liu | - | McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College | | 3. Xinlun Tian | - | Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College | | 4. Kai-Feng Xu | - | Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College | | 5. Xue Zhang | - | McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College |
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Submitted Phenotype Details
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Age at diagnosis: 22
Age at onset: 2
Ethnicity: Chinese
Geographic region: Asia-China
Sweat chloride level: 151.4 mmol/l
Pancreatic statu: Pancreatic sufficiency
Lung disease: FEV1 % pred 61.1%；FEV1/FVC 61.83%
Infection: Pseudomonas aeruginosa
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Reference
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Unpublished
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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