Mutation Details for c.1368delT

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1368delT 
Protein Name p.Ala457LeufsX12 
Exon or Intron  
Other Details  
Contributors and Institutes
Jingyi Sun - Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine
  
Submitted Phenotype Details c.1367delT (p.Ala457Leufs*12) was found in a 9y F with bronchiectasis and Malnutrition. No pathogenic CFTR mutation was found on the other allele. 
Reference  

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The Database was last updated at Apr 25, 2011