Mutation Details for c.2335C>T

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

cDNA Name c.2335C>T 
Protein Name p.Gln779X 
Exon or Intron  
Other Details Direct sequencing of both DNA strands analysis demonstrated that the patient possessed heterozygote of two nonsense mutations in her CFTR gene : c.263T>G (p.L88X) in exon 3 from her father and c.2335C>T (p.Q779X) in exon 14 from her mother. In addition to these mutations, exon 11 was heterozygous for the c.1408A>G (p.M470V) polymorphism and exon 15 contained the silent polymorphism c.2562T>G (T854T).  
Contributors and Institutes
Xiaodong YANG - Yanting WANG
Shaohua LIU - West China Hospital, Sichuan University.
Submitted Phenotype Details A 20-year-old patient of Chinese ethnicity with sweat chloride values of 118.4 mmol/L, productive cough, sputum cultures positive for Pseudomonas, pancreatic insufficiency, liver cirrhosis, clubbing fingers and a history of bronchiectasis. 

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The Database was last updated at Apr 25, 2011