Mutation Details for c.2374C>G

cDNA Name c.2374C>G 
Protein Name p.Arg792Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R792G 
Other Details R792P was detected by SSCP and heteroduplex analysis followed by direct sequencing. 
Contributors Glavac D, Ravnik-Glavac M, Dean M   1995-04-25
Institute National Institute of Chemistry, Slovenia 
Submitted Phenotype Details Patient (M) has CBAVD. DeltaF508 was found on the other allele. 
Reference Glavac et al. (NL#66) 

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The Database was last updated at Apr 25, 2011