Mutation Details for c.1043T>C

cDNA Name c.1043T>C 
Protein Name p.Met348Thr 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name M348T 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, in over 1800 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The mutation was found in the asymptomatic wife, from North Italy, of a CF carrier (nephew CF patient). 

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The Database was last updated at Apr 25, 2011