Mutation Details for c.3068T>G

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3068T>G 
Protein Name p.Ile1023Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
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
  
Submitted Phenotype Details Age at diagnosis: 22 Age at onset: 10 Ethnicity: Chinese Geographic region: Asia-China Sweat chloride level: 113.7 mmol/l Pancreatic statu: Pancreatic insufficiency Lung disease: FEV1 % pred 86.4%；FEV1/FVC 80.6% Infection: Pseudomonas aeruginosa 
Reference Unpublished 

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The Database was last updated at Apr 25, 2011