Mutation Details for c.1689C>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1689C>A 
Protein Name p.Tyr563X 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Halyna Makukh- Lviv, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
  
Submitted Phenotype Details Ukrainian pateint, F508del on the second alelle 
Reference  

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The Database was last updated at Apr 25, 2011