Mutation Details for c.1450C>T

cDNA Name c.1450C>T 
Protein Name p.His484Tyr 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name H484Y 
Other Details The H484Y mutation was detected by SSCA and direct sequencing. The patient is a Spanish man with CBAVD. 
Contributors Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X   1997-01-31
Institute IRO, Barcelona, Spain 
Submitted Phenotype Details Patient (M), has PS and CBAVD. No other mutation has been found. (Pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011