Mutation Details for c.1718C>G

cDNA Name c.1718C>G 
Protein Name p.Ser573Cys 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name S573C 
Other Details  
Contributors Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson,Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert,Phyllis Gardner,E.Robert Wassman,Anja Kammesheidt   2006-03-16
Institute Stanford School of Medicine, Stanford Ambry Genetics Corporation, Irvine  
Submitted Phenotype Details A 9 year old boy with pancreatitis. The second mutation in this patient is not identified. 

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The Database was last updated at Apr 25, 2011