Mutation Details for c.200C>T

cDNA Name c.200C>T 
Protein Name p.Pro67Leu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name P67L 
Other Details P67L mutation was seen on one Caucasian CF chromosome of 48 screened. It was not detected on any of 181 non-CF Caucasian chromosomes by ASO analysis. The patient, a 15 year old female, carries [delta]F508 on the other allele. She was diagnosed at the age of 12. She is pancreatic sufficient with sweat chloride concentrations of 54 and 67 meq/L. 
Contributors Hamosh A, Kiesewetter S, Macek MJr, Davis C, Cutting GR   1993-08-17
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Hamosh et al. (NL#54) 

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The Database was last updated at Apr 25, 2011