Mutation Details for c.2918T>C

cDNA Name c.2918T>C 
Protein Name p.Leu973Pro 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name L973P 
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 found in a patient with CBAVD carrying 3041-4A>G on the same allele and the deltaF508 on the other one. (pers. corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011