Mutation Details for c.2419A>G

cDNA Name c.2419A>G 
Protein Name p.Ile807Val 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name I807V 
Other Details The mutation was detected by DHPLC analysis and characterized by direct sequencing. We have seen it only once, in over 2500 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. The CFTR test is performed in a couple attempting assisted reproductive techniques. 

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The Database was last updated at Apr 25, 2011