Mutation Details for c.609C>G

cDNA Name c.609C>G 
Protein Name p.Ile203Met 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name I203M 
Other Details This mutation was identified on one French CBAVD chromosome. 
Contributors Claustres M, Altieri JP, Guittard C   2004-09-23
Institute Laboratoire de Genetique Moleculaire, IURC<p> 641, Av. du Doyen Gaston Giraud<p> 34093 Montpellier Cedex 5, France 
Submitted Phenotype Details This missense mutation was found in a patient referred for CBAVD and carrying the mutation c.1248+1G>A. Parental DNA was not available for familial segregation. 

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The Database was last updated at Apr 25, 2011