Mutation Details for c.2473_2476dupAACG

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

cDNA Name c.2473_2476dupAACG 
Protein Name p.Glu827ArgfsX10 
Exon or Intron  
Other Details The patient was also heterozygous for Gln1042ThrfsX5 mutation (c.3123dupA). 
Contributors and Institutes
Li N, Zhang C, Su L - Dept.Respiratory and Critical Care Medicine, First Hospital of Peking University, Beijing, China
Submitted Phenotype Details A 11years old Chinese boy presented chronic productive cough with bilateral bronchiectasis and pancreatic insufficiency. Sweat sodium was 135.6 mmol/L (Cl- could not be measured). Serum total IgE 2589U/ml, ALT and AST were abnormal. Sputum culture was P.aeruginosa. The ultrasound of abdomen showed both of liver and pancreas size were small, and splenomegaly. His patients and younger sister had normal phenotype.  

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The Database was last updated at Apr 25, 2011