Mutation Details for c.1523T>C

cDNA Name c.1523T>C 
Protein Name p.Phe508Ser 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name F508S 
Other Details This mutation was found in a patient with CBAVD. 
Contributors Férec C   1998-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with CBAVD carrying D529H on the other allele. (pers. corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011