Mutation Details for c.2204G>A

cDNA Name c.2204G>A 
Protein Name p.Arg735Lys 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R735K 
Other Details The mutation was found in a Romanian CF patient whose other mutation is as yet unidentified, and we have seen it only once. 
Contributors Benga G, Frentescu L, Shaw H, Hinks J, Brownsell E, Malone G M, Schwarz M J   2001-11-30
Institute Royal Manchester Children's Hospital England, UK 
Submitted Phenotype Details The Romanian CF patient carries an unidentified mutation on the other allele. (pers. corr.Schwarz) 
Reference Benga et al. 2001 

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The Database was last updated at Apr 25, 2011