Mutation Details for c.43_45delinsA
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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.43_45delinsA
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Protein Name
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p.Val43X
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Exon or Intron
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Other Details
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The mutation was detected by direct sequencing. The patient also carries F508del.
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Contributors and Institutes
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Mellies U, Children’s Hospital, University Essen, Essen, Germany. | - | Stuhrmann M, Schoener A, Institute of Human Genetics, Hannover Medical School, Hannover, Germany. |
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Submitted Phenotype Details
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The mutation was found in a severly affected 5-year-old girl with progressed chronic obstructive lung disease. Further symptoms are a bacterial miscolonization with Staphylococcus aureus, Stenotrophomonas maltophilia, Candida albicans, and Aspergillus fumigatus, an exocrine PI and a severe dystrophy.
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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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