Mutation Details for c.1516A>G

cDNA Name c.1516A>G 
Protein Name p.Ile506Val 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I506V (1648A/G) 
Other Details The mutation was previously reported as a polymorphism - Kobayashi et al. 1990; Vidaud et al. per.comm.  
Contributors Ferec C., 2002   1990-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France  
Submitted Phenotype Details The mutation was identified in a CF carrier. (pers. corr. Ferec) 
Reference Kobayashi et al. 1990; Vidaud et al. per.comm. 

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The Database was last updated at Apr 25, 2011