Mutation Details for c.4054C>G

cDNA Name c.4054C>G 
Protein Name p.Gln1352Glu 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name Q1352E 
Other Details The mutation was detected by DHPLC analysis and characterized by direct sequencing. We have seen it only twice, in over 3000 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The change was found in the asymptomatic husband, from Central Italy, of a CF carrier 

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The Database was last updated at Apr 25, 2011