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.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
