Mutation Details for c.3803A>G

cDNA Name c.3803A>G 
Protein Name p.Gln1268Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name Q1268R 
Other Details The mutation was detected by DHPLC analysis and characterised by direct sequencing. We have seen it only once, in over 500 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D.   2006-12-20
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The change was found in the asymptomatic wife, from Northeast Italy, of a CF carrier. 
Reference  

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The Database was last updated at Apr 25, 2011