Mutation Details for c.2909-15T>G

cDNA Name c.2909-15T>G 
Exon or Intron intron 17 
Legacy Exon or Intron intron 15 
Legacy Name 3041-15T->G 
Other Details This mutation was detected in the homozygous state in a Turkish CBAVD patient. 
Contributors Dayangac D, Erdem H, Özgüc M, Dörk T   2001-10-21
Institute Dept. of Medical Biology Hacettepe University, Sihhiye, Turkey 
Submitted Phenotype Details The homozygous patient (male, 42y) was diagnosed with CBAVD.(pers. corr. Dayangac) 
Reference Dayangac et al. 2001 

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The Database was last updated at Apr 25, 2011