Mutation Details for c.250T>C

cDNA Name c.250T>C 
Protein Name p.Tyr84His 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name Y84H 
Other Details The mutation was detected by DGGE analysis and characterised 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 husband, from North Italy, of a CF carrier . 

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The Database was last updated at Apr 25, 2011