Mutation Details for c.2803_2813delCTACCACTGGT
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.2803_2813delCTACCACTGGT
|
|
Protein Name
|
p.Leu935AlafsX36
|
|
Exon or Intron
|
exon 17
|
|
Other Details
|
Legacy name: 2935del11
|
|
Contributors and Institutes
|
| Krenkova P., Piskáčková T., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic | - | |
|
|
Submitted Phenotype Details
|
Found in one Czech male patient carrying F508del on the other allele. He was diagnosed at 3 years of age, sweat chloride concentration 101 mmol/l, pancreatic insufficient, colonized by Pseudomonas aeruginosa and Burholderia cepacia, diabetes mellitus, astenozoospermia, bronchiectasis, pansinusitis, malnutrition.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
