Mutation Details for c.1549T>C

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

cDNA Name c.1549T>C 
Protein Name p.Tyr517His 
Exon or Intron  
Other Details 1540del10 mutation was found in the other allele, which was inherited from her healthy Japanese mother. 
Contributors and Institutes
Nakakuki M, Ishiguro H. 2012-12-03 - Department of Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan
Submitted Phenotype Details 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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The Database was last updated at Apr 25, 2011