Mutation Details for c.434T>A

cDNA Name c.434T>A 
Protein Name p.Leu145His 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L145H 
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 brothers (age 16 and 14) were diagnosed at ages 9 and 7, respectively. Both have sweat chlorides of 104mmol/l and pancreatic suffient. Both have mutation 1259insA.l 

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The Database was last updated at Apr 25, 2011