Mutation Details for c.1826A>G

cDNA Name c.1826A>G 
Protein Name p.His609Arg 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name H609R 
Other Details This mutation was detected by DGGE and identified by direct sequencing. H609R is not found in 100 other non-[delta]F508 CF chromosomes and 100 non CF chromosomes tested. The mutation creates an MaeII site. It was found in a CF patient originating from Columbia. 
Contributors Bienvenu T, Bousquet S, Vidaud D, Keyeux G, Beldjord C   1997-06-13
Institute Laboratoire de Biochimie Génétique, Pavillon Cassini, Paris, France 
Submitted Phenotype Details No additional clinical info available. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#69) 

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The Database was last updated at Apr 25, 2011