Mutation Details for c.2297G>T

cDNA Name c.2297G>T 
Protein Name p.Arg766Met 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R766M 
Other Details R766M was identified by non-radioactive SSCP and direct sequencing; it creates a FokI restriction site. 
Contributors Glavac D, Ravnik-Glavac M, Dean M   1995-05-03
Institute National Institute of Chemistry, Slovenia 
Submitted Phenotype Details This male individual is known to only have CBAVD. R792G was found on the other allele. (Ravnik-Glavac et al. 2000) 
Reference Glavac et al. (NL#66) 

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The Database was last updated at Apr 25, 2011