Mutation Details for c.1116+52T>C

cDNA Name c.1116+52T>C 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1248+52T/C 
Other Details The above sequence alteration was detected by SSCP analysis and identified by direct sequencing. It was found in one French patient as a result of a collaborative study between the Laboratory of Molecular Pathology in Sofia, Bulgaria and Laboratoire de Biochimie Génétique, Montpellier, France. 
Contributors Jordanova A, Kalaydjieva L, Claustres M   1996-08-21
Institute Laboratory of Molecular Pathology, Sofia, Bulgaria 
Submitted Phenotype Details 1248+52T/C is considered to be a polymorphism. (pers. corr. Claustres)  
Reference Jordanova et al. (NL#69) 

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The Database was last updated at Apr 25, 2011