Mutation Details for c.2473_2476dupAACG
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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.2473_2476dupAACG
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Protein Name
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p.Glu827ArgfsX10
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Exon or Intron
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Other Details
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The patient was also heterozygous for Gln1042ThrfsX5 mutation (c.3123dupA).
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Contributors and Institutes
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| Li N, Zhang C, Su L | - | Dept.Respiratory and Critical Care Medicine, First Hospital of Peking University, Beijing, China |
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Submitted Phenotype Details
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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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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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