Mutation Details for c.2723C>A

cDNA Name c.2723C>A 
Protein Name p.Thr908Asn 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name T908N 
Other Details Found by DGGE and DNA sequencing. (CBAVD patient, genotype [delta]F508/T908N) 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1996-12-30
Institute Laboratoire de Biogénétique, University of Brest, Brest, France 
Submitted Phenotype Details CBAVD patient carrying deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011