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.  

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

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011