Mutation Details for c.3124C>T

cDNA Name c.3124C>T 
Protein Name p.Gln1042X 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name Q1042X 
Other Details  
Contributors Férec C   1998-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (female, 6y) carrying deltaF508 on the other allele.(pers.corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011