Mutation Details for c.-495C>T

cDNA Name c.-495C>T 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -363C/T 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one CF patient; the mutation on the other chromosome is unknown. 
Contributors Zielenski J, Aznarez I, Tsui L-C Bjork E   1999-06-07
Institute The Hospital for Sick Children Toronto, Canada Sahlgrenska University Hospital Goteborg, Sweden 
Submitted Phenotype Details No additional clinical information available (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011