Mutation Details for c.3208C>T

cDNA Name c.3208C>T 
Protein Name p.Arg1070Trp 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1070W 
Other Details Teh R1070W mutation was detected on 1 US Caucasian chromosome out of 48 screened. ASO analysis of 100 non-CF Caucasian chromosomes did not reveal this mutation on any of the tested chromosomes. The 15 months old CBAVD patient carries the [delta]F508 mutation on the other allele. 
Contributors Macek MJr, Sedriks S, Kiesewetter S, Cutting GR   1993-08-20
Institute Center for Medical Genetics Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Macek et al. (NL#58) 

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