Mutation Details for c.3140-11A>G

cDNA Name c.3140-11A>G 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-11A->G 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The mutation was found in a 11y M, diagnosed at 10y, PI, with intestinal obtruction, MTHFR deficiency. He carries 3667ins4 on the other allele. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011