Mutation Details for c.357C>T

cDNA Name c.357C>T 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 489 C/T 
Other Details The mutation was detected by DGGE 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 North-East Italy, of a CF carrier. 

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The Database was last updated at Apr 25, 2011