Mutation Details for c.1733_1734delTA

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

cDNA Name c.1733_1734delTA 
Protein Name p.Leu578ArgfsX10 
Exon or Intron  
Other Details  
Contributors and Institutes
mgr.Malgorzata Libik, Faculty Hospital Motol,Prague, Czech Republic, Dr.Osama Majed – Manama Dept. Pediatrics, Bahrain,prof.Milan Macek,Faculty Hospital Motol,Prague, Czech Republic -
Submitted Phenotype Details Patient from Bahrain. Mutation found by Sanger sequencing. 

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The Database was last updated at Apr 25, 2011