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 

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The Database was last updated at Apr 25, 2011