Mutation Details for c.4193T>G

cDNA Name c.4193T>G 
Protein Name p.Ile1398Ser 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name I1398S 
Other Details This mutation was identified in two male twins with CF. 
Contributors Nulang Wang, Garry Cutting    2005-08-24
Institute Johns Hopkins University School of Medicine 
Submitted Phenotype Details The twins (age 25) were diagnosed in the first 6 months of life. Their sweat chloride is 66 mmol/l and 56 mmlo/l, respectively. Both are pancreatic insufficient. Both have mutation delta F508 

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The Database was last updated at Apr 25, 2011