Mutation Details for c.1549T>C
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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.1549T>C
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Protein Name
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p.Tyr517His
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Exon or Intron
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Other Details
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1540del10 mutation was found in the other allele, which was inherited from her healthy Japanese mother.
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Contributors and Institutes
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| Nakakuki M, Ishiguro H. 2012-12-03 | - | Department of Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan |
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Submitted Phenotype Details
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The patient was a 10-year-old Japanese girl. She had recurrent upper respiratory infections, hepatomegaly, pancreatic atrophy, and electrolyte imbalance. Sweat Cl- concentration was 117 mmol/L. She was diagnosed with cystic fibrosis associated with liver cirrhosis.
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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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