Mutation Details for c.4272C>G
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.4272C>G
|
|
Protein Name
|
p.Tyr1424X
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| Lenka Dvorakova, Malgorzata Libik, Andrea Holubova | - | Department of Biology and Medical Genetics,University Hospital Motol, Prague, Czech Republic |
|
|
Submitted Phenotype Details
|
Patient with positive newborn screening for cystic fibrosis. Positive sweat test.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
