Mutation Details for c.2491-23A>G

cDNA Name c.2491-23A>G 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2623-23A->G 
Other Details This mutation has been identified in a Spanish CBAVD patient 
Contributors J. Gimenez, M.D. Ramos, T. Casals   2006-08-30
Institute CGMM-IRO 
Submitted Phenotype Details The patient (CBAVD) presents the genotype [G542X] + [2623-23A>G]. 

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The Database was last updated at Apr 25, 2011