Mutation Details for c.2988+2t>C

cDNA Name c.2988+2t>C 
Exon or Intron intron 18 
Other Details This mutation was identified by direct sequencing on one Chinese CF chromosome.  
Contributors and Institutes
Li N - First Hospital of Peking University, Beijing, China
Zhang C - First Hospital of Peking University, Beijing, China
Pu D-F - First Hospital of Peking University, Beijing, China
Wang G-F - First Hospital of Peking University, Beijing, China
  
Submitted Phenotype Details A 12 years old Chinese girl presented chronic productive cough with bilateral bronchiectasis and pancreatic insufficiency. Sweat chloride was 108 mmol/L. The ultrasound of abdomen showed liver cirrhosis and splenomegaly. The patient was also heterozygous for W679X mutation. Her patients had normal phenotype 
Reference  

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The Database was last updated at Apr 25, 2011