Mutation Details for c.3922G>T

cDNA Name c.3922G>T 
Protein Name p.Glu1308X 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name E1308X 
Other Details Found in the CFTR gene by DGGE and DNA sequencing. (CF patient, genotype E1308X/G542X)  
Contributors Férec C, Verlingue C, Quere I, Mercier B   1997-01-21
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The French CF patient carries G542X on the other allele. (pers.corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011