Mutation Details for c.3123dupA

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

cDNA Name c.3123dupA 
Protein Name p.Gln1042ThrfsX5 
Exon or Intron  
Other Details The p.Gln1042ThrfsX5 (c.3123_3124insA) mutation was inherited from his healthy Japanese father. F508del mutation was found in the other allele, which was inherited from his healthy Japanese mother with a distant Caucasian ancestor. 
Contributors and Institutes
Nakakuki M, Ishiguro H. 2012-09-14 - Department of Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan
Submitted Phenotype Details The patient was a 4-month-old Japanese boy. He had ascites, recurrent pneumonia, and steatorrhea. Sweat Cl- concentration was 150 mmol/L. He was diagnosed with cystic fibrosis associated with liver cirrhosis and pancreatic exocrine dysfunction. 

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The Database was last updated at Apr 25, 2011