Mutation Details for c.1090T>C

cDNA Name c.1090T>C 
Protein Name p.Ser364Pro 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name S364P 
Other Details The S364P alteration was found on one African-American CF chromosome of 50 screened. It was also detected on one of 224 nromal African-American chromosomes and was not seen on any of 181 Caucasian non CF chromosomes by ASO analysis. Whether this alteration is a rare polymorphism or a deleterious mutation in the African-American population is unclear because we have insufficient non-CF chromosomes in this population to distinguish between the two possibilities.  
Contributors Hamosh A, Kiesewetter S, Macek MJr, Davis C, Cutting GR   1993-08-17
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details The patient is a 16 year old femal who is pancreatic insufficient with a mild pulmonary disease. She was diagnosed at age 3 due to rectal prolapse. (orig. note) 
Reference Hamosh et al. (NL#54) 

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The Database was last updated at Apr 25, 2011