Mutation Details for c.1718C>T

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

cDNA Name c.1718C>T 
Protein Name p.Ser573Phe 
Exon or Intron  
Other Details  
Contributors and Institutes
Alonso MJ, TellerĂ­a JJ, Izquierdo I, Samaniego R, Fernandez I -
Submitted Phenotype Details Newborn with raised IRT . 

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The Database was last updated at Apr 25, 2011