Mutation Details for c.355A>G

cDNA Name c.355A>G 
Protein Name p.Ile119Val 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I119V 
Other Details The mutation was found in a (probable) CF patient whose other mutation is as yet unidentified. The patient is a six year old girl whose symptoms appear to be confined to recurrent chest infections, but has 'high normal sweat tests'. 
Contributors Schwarz MJ, Malone GM, Brownsell E, Hinks J   2002-06-18
Institute Royal Manchester Children's Hospital England, UK 
Submitted Phenotype Details  
Reference Schwarz et al. 2002 

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The Database was last updated at Apr 25, 2011