Mutation Details for c.274G>A

cDNA Name c.274G>A 
Protein Name p.Glu92Lys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name E92K 
Other Details E92K was detected in one Spanish chromosome out of 100 non-[delta]F508 chromosomes studied. The mutation on the other chromosome of this patient is unknown, but has the haplotype C/D. The mutation has been detected by SSCP analysis of exon 4 PCR product using intronic primers. Th ebase change has been confirmed after recovering the mutated strand from the SSCP gel, purified and directly sequenced using an automatic sequencer. 
Contributors Chillon M, Nunes V, Estivill X   1991-07-09
Institute Cancer Research Institute Barcelona, Spain 
Phenotype Information CFTR2
Reference Nunes et al. 1993 

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The Database was last updated at Apr 25, 2011