Mutation Details for c.2464G>T

cDNA Name c.2464G>T 
Protein Name p.Glu822X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E822X 
Other Details The above mutation was detected by DGGE and confirmed by direct sequencing. It was found in 4 of 572 CF chromosomes screened (0.84%). The genotypes of the 4 Greek patients are: [delta]F508/E822X, 3272-26A->G/E822X, 621+1G->T/E822X and E822X/?. 
Contributors Tzetis M, Antoniadi T, Kanavakis E   1995-10-11
Institute Athens University, Greece 
Phenotype Information CFTR2
Reference Tzetis et al (NL#67) 

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The Database was last updated at Apr 25, 2011