Mutation Details for c.2739T>A

cDNA Name c.2739T>A 
Protein Name p.Tyr913X 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Y913X 
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 male neonate of European/Brazilian ancestry presented with meconium ileus at birth and severe pancreatic insuffiency. He had a borderline sweat chloride. He had deltaF508 on the other allele. He also had another missense variant in exon 17a, I1027T (3212T>C) which has been reported earlier. Family studies have not been performed to identify which allele carries two mutations.  

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The Database was last updated at Apr 25, 2011