Mutation Details for c.2433_2437delinsATA

cDNA Name c.2433_2437delinsATA 
Protein Name p.Leu812TyrfsX10 
Exon or Intron exon 14 
Other Details Found in a newly diagnosed boy (5yrs) whose other mutation is G551D. 
Contributors and Institutes
Mike Bulman - Regional Molecular Genetics LaboratorySt Mary’s Hospital
Chris Charlton - Regional Molecular Genetics LaboratorySt Mary’s Hospital
Emma Brownsell - Regional Molecular Genetics LaboratorySt Mary’s Hospital
Jo Brock - Regional Molecular Genetics LaboratorySt Mary’s Hospital
Martin Schwarz - Regional Molecular Genetics LaboratorySt Mary’s Hospital
  
Submitted Phenotype Details Not yet known 
Reference  

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The Database was last updated at Apr 25, 2011