Mutation Details for c.2417A>G

cDNA Name c.2417A>G 
Protein Name p.Asp806Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D806G 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, in over 2100 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 mutation was identified in suspect CF Italian patient (male, 24y). The patient had borderline sweat test with recurrent pancreatitis, He carries R553X ? Q1463H on the other allele. 

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The Database was last updated at Apr 25, 2011