Mutation Details for c.1687T>A

cDNA Name c.1687T>A 
Protein Name p.Tyr563Asn 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y563N 
Other Details This mutation is found in a single family with 2 PS patients, but the mutation in the other chromosome is unknown. 
Contributors Kerem B, Zielenski J, Bozon D, Tsui LC   1990-04-05
Institute The Hospital for Sick Children Toronto, ON, Canada 
Submitted Phenotype Details  
Reference Kerem et al. (NL #13) 

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The Database was last updated at Apr 25, 2011