Mutation Details for c.4163_4167delTAAAA

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

cDNA Name c.4163_4167delTAAAA 
Protein Name p.Leu1388ProfsX5 
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 Patient from Ukraine, F508del on the second alelle. 

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The Database was last updated at Apr 25, 2011