Mutation Details for c.43_45delinsA

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

cDNA Name c.43_45delinsA 
Protein Name p.Val43X 
Exon or Intron  
Other Details The mutation was detected by direct sequencing. The patient also carries F508del. 
Contributors and Institutes
Mellies U, Children’s Hospital, University Essen, Essen, Germany. - Stuhrmann M, Schoener A, Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Submitted Phenotype Details 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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The Database was last updated at Apr 25, 2011