Mutation Details for c.3963+69a>G

cDNA Name c.3963+69a>G 
Exon or Intron intron 24 
Other Details  
Contributors and Institutes
Templin C - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Altieri JP - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Guittard C - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Claustres M - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
des Georges M - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
  
Submitted Phenotype Details This probable polymorphism was identified by direct sequencing in a CBAVD patient originating from Maghreb who was compound heterozygous for Trp1282X and [TG11T5;Val562Ile] 
Reference  

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The Database was last updated at Apr 25, 2011