Mutation Details for c.3256A>G

cDNA Name c.3256A>G 
Protein Name p.Thr1086Ala 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name T1086A 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The mutation was found in a 27y female considered as a CF carrier, partner of a CUAVD patient(pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011