Mutation Details for c.2816A>G

cDNA Name c.2816A>G 
Protein Name p.His939Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name H939R 
Other Details Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/H939R) 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1996-12-30
Institute Laboratoire de Biogénétique, University of Brest, Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (male, 17y) PS, with moderate lung disease and sweat chloride 106 mmol/l. He carries deltaF508 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