Mutation Details for c.1753G>T

cDNA Name c.1753G>T 
Protein Name p.Glu585X 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name E585X 
Other Details This nonsense mutation was found through DGGE analysis and direct sequencing. The mutation has been detected in 4 out of 95 CF non-[delta]F508 chromosomes and it was not found in 42 normal chromosomes. 
Contributors Ferrari M, Cremonesi L, Magnani C Romeo G, Ronchetto P, Telleria JJ, Devoto M Goossens M, Fanen P   1990-03-15
Institute Milan, Italy Genova, Italy Creteil, France 
Phenotype Information CFTR2
Reference Cremonesi et al. (NL #33) 

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The Database was last updated at Apr 25, 2011