Mutation Details for c.1882G>A

cDNA Name c.1882G>A 
Protein Name p.Gly628Arg 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name G628R(G->A) 
Other Details  
Contributors Fanen P, Ghanem N, Goossens M   1991-07-19
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The PI male patient has severe lung disease and carries 3849+10kbC>T on the other allele. (pers. corr. Girodon) 
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011