Mutation Details for c.472dupA
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.472dupA
|
|
Protein Name
|
p.Ser158LysfsX5
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| Nika Petrova, Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Russian Academy of Medical Scienses | - | |
|
|
Submitted Phenotype Details
|
This mutation was first detected by RFLP on PAGE, the identified by direct sequencing. This 1-bp insertion leads to a chain termination codon downstream in exon 4. It was present in three CF chromosomes, in 3 patients from Russia.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
