Mutation Details for c.1756A>G

cDNA Name c.1756A>G 
Protein Name p.Ile586Val 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name I586V 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 2000 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 wife (poliT 7-7 and 1716 a/g polimorfism), from North-East Italy, of a CF carrier with azoospermia (R117H and L997F with poliT 7-9). 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