Mutation Details for c.2335C>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.2335C>T
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Protein Name
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p.Gln779X
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Exon or Intron
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not available
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Other Details
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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).
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Contributors and Institutes
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| Xiaodong YANG | - | Yanting WANG | | Shaohua LIU | - | West China Hospital, Sichuan University. |
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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