Mutation Details for c.-8G>C

cDNA Name c.-8G>C 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 125G/C 
Other Details This change was found on one CF and seven non-CF chromosomes. The CF and six of the non-CF chromosomes have the haplotype 1-1-2-2. The remaining non-CF chromosome had the haplotype 2-1-2-2. This sequence variation was not observed on 18 non-CF chromosomes with other haplotypes. This variation destroys the unique AvaI site in exon 1. 
Contributors Cutting GR, Curristin S   1990-08-07
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting et al. 1992 

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The Database was last updated at Apr 25, 2011