Mutation Details for c.4056G>C

cDNA Name c.4056G>C 
Protein Name p.Gln1352His 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name Q1352H(G->C) 
Other Details  
Contributors Nukiwa T, Seyama K   1993-05-13
Institute Juntendo University Tokyo, Japan 
Submitted Phenotype Details This mutation was found in a patient with diffuse panbronchiolitis. It was also found by Yoshimura in 3 out of 12 Japanese CBAVD patients in 1999. Two of them had mutations W216X and G1349S in the other allele. It was also found in 3 out of 25 patients with diffuse panbronchiolitis, one of them having E217G in the other allele. (orig note) 
Reference Nukiwa & Seyama (NL#55) 

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The Database was last updated at Apr 25, 2011