Mutation Details for c.1135G>T

cDNA Name c.1135G>T 
Protein Name p.Glu379X 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name E379X 
Other Details This mutation was found in one CF patient of Greek origin who carried the G542X allele on the second CF chromosome. 
Contributors Glaeser D, Mehnert K    2000-08-14
Institute Laboratory of Medical Genetics Neu-Ulm, Germany 
Submitted Phenotype Details  
Reference Glaeser & Mehnert 2000 

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The Database was last updated at Apr 25, 2011