Mutation Details for c.547C>A

cDNA Name c.547C>A 
Protein Name p.Leu183Ile 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name L183I 
Other Details This mutation was found in a CBAVD Pakistani male, who also has the 5T allele (phase unknown). 
Contributors Pearson A, Shaw H, Hinks J, Malone G, Schwarz MJ   2005-04-21
Institute National Genetics Reference Laboratory, Manchester, UK 
Submitted Phenotype Details CBAVD; Pakistani 

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The Database was last updated at Apr 25, 2011