Mutation Details for c.2706C>G

cDNA Name c.2706C>G 
Protein Name p.Ser902Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name S902R 
Other Details This variation was detected by DGGE and identified by DNA fluorescent sequencing in a 30-years patient from Southern France suffering from disseminated bronchiectasis. She carries the 2118delAACT mutation in trans. 
Contributors Claustres M, des Georges M, Guittard C   2002-03-12
Institute IURC Montpellier 
Submitted Phenotype Details Patient (F) is 31y, has PS, moderate lung disease (bronchiectasis) and elevated sweat-chloride levels. 2118delAACT was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. 2002 

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