Mutation Details for c.3236A>C

cDNA Name c.3236A>C 
Protein Name p.His1079Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name H1079P 
Other Details This mutation was identified in two sister siblings with CF. 
Contributors Nulang Wang, Garry Cutting    2005-08-24
Institute Johns Hopkins University School of Medicine 
Submitted Phenotype Details The sisters (age 18 and 15) were diagnosed in their first year. The younger sisters sweat chloride is 95.5 mmlo/l, no data for the elder sister. Both siblings are pancreatic insufficient. Both have mutauion W1282X 

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The Database was last updated at Apr 25, 2011