Mutation Details for c.837A>T

cDNA Name c.837A>T 
Protein Name p.Glu279Asp 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name E279D 
Other Details The mutation was detected by DGGE and DHPLC and identified by direct sequencing. We have seen it only twice, in over 1000 non-[delta]F508 chromosomes screened.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-06
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The change was found in the asymptomatic husband of a CF carrier. 

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The Database was last updated at Apr 25, 2011