Mutation Details for c.4141T>C

cDNA Name c.4141T>C 
Protein Name p.Tyr1381His 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Y1381H 
Other Details The mutation was detected by DGGE analysis and characterised 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 wife, from Southern Italy, of a CF carrier . 
Reference  

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The Database was last updated at Apr 25, 2011