Mutation Details for c.115C>T

cDNA Name c.115C>T 
Protein Name p.Gln39X 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name Q39X 
Other Details The mutation was discovered on one Caucasian CF chromosome out of 26 American black and 32 Caucasian CF chromosomes examined. The patient who carries this mutation has the exon 12 mutation Y563N on his other chromosome. The patient was 18 years old at the time of DNA collection and is of Irish/German descent. The Q39X mutation is associated with the haplotype 2-2-2-1. This mutation was detected by direct sequencing. 
Contributors Cutting GR, Curristin S   1990-07-30
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Cutting et al. 1992 

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The Database was last updated at Apr 25, 2011