Mutation Details for c.3883_3886delATTT

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3883_3886delATTT 
Protein Name p.Ile1295PhefsX32 
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: 18 Age at onset: 5 Ethnicity: Chinese Geographic region: Asia-China Sweat chloride level: 218.4 mmol/l Pancreatic statu: Pancreatic sufficiency Lung disease: FEV1 % pred 25.9%；FEV1/FVC 56.26% Infection: none 
Reference Unpublished 

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The Database was last updated at Apr 25, 2011