Mutation Details for c.1716C>A

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.1716C>A 
Protein Name p.Asp572Glu 
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: 44 Age at onset: 6 Ethnicity: Chinese Geographic region: Asia-China Sweat chloride level: not available Pancreatic statu: Pancreatic sufficiency Lung disease: not available Infection: Pseudomonas aeruginosa 
Reference Unpublished 

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011