Mutation Details for c.2490+2T>C

cDNA Name c.2490+2T>C 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2622+2T>C 
Other Details This mutation was identified at the heterozygous state in the partner of a CBAVD patient. The woman is Algerian. 
Contributors E. Girodon, C. Costa, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Healthy individual. 

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The Database was last updated at Apr 25, 2011