Mutation Details for c.4243-1g>T
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.4243-1g>T
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| mgr. Malgorzata Libik- Faculty Hospital MOtol, Prague, Czech Republic, PhD, Dr. Guergana Petrova – Alexandrovska University Hospital and Dr. Alexey Savov– Medical Genetics, Sofia, Prof. Milan Macek-Faculty Hospital MOtol, Prague, Czech Republic | - | |
|
|
Submitted Phenotype Details
|
Bulgarian patient, sweat test 80 mmol/l Cl, F508del on the second allele.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
