Mutation Details for c.2883G>T

cDNA Name c.2883G>T 
Protein Name p.Met961Ile 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name M961I 
Other Details This mutation was seen in a 14 year-old female CF patient whose other CF mutation is [delta]F508. She has had a positive sweat test and is awaiting transplant assessment. We have seen this mutation and polymorphism only once in over 200 CF chromosomes screened. 
Contributors Malone G, Andrew N, Schwarz M   2000-09-14
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details The CF patient (female) has positive sweat chloride tests. Her other mutation is DelF508. (pers.corr.Schwarz) 
Reference Malone et al. 2000 

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