Mutation Details for c.1291A>G

cDNA Name c.1291A>G 
Protein Name p.Ser431Gly 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name S431G 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 2100 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
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