Mutation Details for c.413_415dupTAC

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

cDNA Name c.413_415dupTAC 
Protein Name p.Leu138dup 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Halyna Makukh, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Ukrainian patient, 621+ 1G>T on the second alelle 

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The Database was last updated at Apr 25, 2011