Mutation Details for c.874G>A

cDNA Name c.874G>A 
Protein Name p.Glu292Lys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name E292K 
Other Details The above mutation was detected by DGGE with chemical clamps and identified by direct sequencing. It was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The French patient presents PI and moderate pulmonary disease. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1996-04-23
Institute Laboratoire de Biochimie Génétique, Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details One CF patient, PI, moderate lung disease (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#68) 

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The Database was last updated at Apr 25, 2011