Mutation Details for c.3398T>G

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3398T>G 
Protein Name p.Leu1133Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
mgr. Malgorzata Libik, PhD,Faculty Hospital Motol, Czech Republic, Dr. Halyna Makukh, Dr. Ludmila Bober – Lviv, Dr. Erika Turak Uzzhorod, Ukraine - Prof. Milan Macek PhD,Faculty Hospital Motol, Czech Republic
  
Submitted Phenotype Details Ukrainian patient with G542X on the second allele. 
Reference  

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The Database was last updated at Apr 25, 2011