Mutation Details for c.4115C>T

cDNA Name c.4115C>T 
Protein Name p.Pro1372Leu 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name P1372 L 
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 Patient is a newborn female. The second mutation was not identified and further clinical information is not available 
Reference  

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The Database was last updated at Apr 25, 2011