Mutation Details for c.3808G>T

cDNA Name c.3808G>T 
Protein Name p.Asp1270Tyr 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name D1270Y 
Other Details This mutation was identified in two brother siblings with CF. 
Contributors Nulang Wang, Garry Cutting   2005-08-24
Institute Johns Hopkins University School of Medicine 
Submitted Phenotype Details The siblings (age 40 and 38) were diagnosed at ages 23 and 22, respectively. The elderS sweat chloride is 77mmol/l, the yiunger's is 68 mmol/l. Both are pancreatic sufficient. Both have mutation delta F508 

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The Database was last updated at Apr 25, 2011