Mutation Details for c.836_838delAAG

cDNA Name c.836_838delAAG 
Protein Name p.Glu279del 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name E278del 
Other Details This mutation was detected by SSCA and direct sequencing. E278del (old nomenclature: [delta]E278) was identified in a Spanish CF carrier mother. 
Contributors Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X   1998-01-08
Institute IRO Barcelona, Spain 
Submitted Phenotype Details The mutation was found on the maternal chromosome of a male CF patient who died, after being diagnosed at 4 months of age. He was PI, had sweat chloride 100mmol/l and carried deltaF508 on the other allele. (pers. corr. Casals) 
Reference Casals et al. (NL#70) 

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The Database was last updated at Apr 25, 2011