Mutation Details for c.3123dupA
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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.3123dupA
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Protein Name
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p.Gln1042ThrfsX5
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Exon or Intron
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Other Details
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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.
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Contributors and Institutes
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| Nakakuki M, Ishiguro H. 2012-09-14 | - | 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 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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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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