Mutation Details for c.2669A>G

cDNA Name c.2669A>G 
Protein Name p.Gln890Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Q890R 
Other Details This mutation was found by DGGE and direct DNA sequencing in a Spanish CUAVD patient. 
Contributors Casals T, Ramos M D, Jimenez J, Nunes V, Estivill X   1998-12-31
Institute IRO Barcelona, Spain 
Submitted Phenotype Details Patient (M) is 35y and has CUAVD. No other mutation was found. (Pers. corr. Casals) 
Reference Casals et al. 1998 

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The Database was last updated at Apr 25, 2011