Mutation Details for c.273+46T>G

cDNA Name c.273+46T>G 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 405+46G/T 
Other Details This was discovered by SSCP analysis, then identified by direct sequencing. It destroys a Nsi restriction site. 
Contributors Claustres M   1992-07-20
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details 405+46G/T was considered to be a polymorphism found in several patients or individuals. (pers. corr. Claustres)  
Reference Claustres et al. 1993 

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The Database was last updated at Apr 25, 2011