Mutation Details for c.481T>G

cDNA Name c.481T>G 
Protein Name p.Tyr161Asp 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y161D 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Swedish patient with atypical CF (second mutationL unknown). 
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjork E, Strandvik B, Wahlstrom J   1999-03-04
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital, Goteborg, Sweden 
Submitted Phenotype Details The mutation is associated with atypical CF phenotype. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011