Mutation Details for c.580G>T

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

cDNA Name c.580G>T 
Protein Name p.Gly194X 
Exon or Intron  
Other Details It was detected by Next Generation Sequencing and verified by Sanger Sequencing 
Contributors and Institutes
Palaiologou D, Lazaros L, Kanavakis E - Genesis Genoma Lab, Athens, Greece
  
Submitted Phenotype Details This mutation was identified in a non symptomatic female carrier. No other mutation was detected in the patient.  
Reference  

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The Database was last updated at Apr 25, 2011