Mutation Details for c.1472G>C

cDNA Name c.1472G>C 
Protein Name p.Cys491Ser 
Exon or Intron exon 11 
Other Details  
Contributors and Institutes
Myrto Poulou - Department of Medical Genetics, Athens University
Emmanuel Kanavakis - Department of Medical Genetics, Athens University
Maria Tzetis - Department of Medical Genetics, Athens University
  
Submitted Phenotype Details This change has been identified through DGGE and direct sequencing, while screening a male presenting with CBAVD. No other change was identified after screening all the coding regions 
Reference  

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