Mutation Details for c.4046G>A

cDNA Name c.4046G>A 
Protein Name p.Gly1349Asp 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name G1349D 
Other Details We tested 20 non-[delta]F508 CF chromosomes and did not find a second example of this mutation. The mutation destroys an NcoI site.  
Contributors Kobayashi K, Beaudet Al   1990-03-20
Institute Baylor College of Medicince Houston, TX, USA 
Submitted Phenotype Details No additional clinical info is available. 
Reference Beaudet et al. 1991 

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Literature referencing this mutation. Sort by: 
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The Database was last updated at Apr 25, 2011