Mutation Details for c.413T>C

cDNA Name c.413T>C 
Protein Name p.Leu138Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 545T/C 
Other Details Leu or Pro at 138 
Contributors    1992-11-20
Submitted Phenotype Details  
Reference Dörk et al. (NL#50) 

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The Database was last updated at Apr 25, 2011