Mutation Details for c.1405A>G

cDNA Name c.1405A>G 
Protein Name p.Met469Val 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name M469V 
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 38y M with CBAVD, diagnosed at 37y, PS, M469V in cis with M470V (1540A/G), also carrying deltaF508 on the other allele. (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011