Mutation Details for c.2930C>T

cDNA Name c.2930C>T 
Protein Name p.Ser977Phe 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name S977F 
Other Details The CF patient has G542X and S977F. 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1997-06-03
Institute Laboratoire de Biogénétique 
Phenotype Information CFTR2
Reference Férec et al. (NL#69) 

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