Mutation Details for c.2908G>C

cDNA Name c.2908G>C 
Protein Name p.Gly970Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name G970R 
Other Details The G970R mutation (G->C at nucleotide position 3040) in exon 15 was found in 1 out of 34 unrelated Belgian CF chromosomes (7 [delta]F508 and 27 non-[delta]F508 CF chromosomes). 
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-04-07
Institute Center for Human Genetics Leuven, Belgium 
Phenotype Information CFTR2
Reference Cuppens et al. 1993 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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