Mutation Details for c.1234delG

cDNA Name c.1234delG 
Protein Name p.Ala412GlnfsX30 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1366delG 
Other Details Frameshift mutation 1366delG was identified in a German CF patient who is heterozygous for 1366delG and for the G542X mutation. 
Contributors Dörk T, Frye H, Stuhrmann M   1997-06-20
Institute Medizinische Hochschule Hannover, Hannover, Germany 
Submitted Phenotype Details One female CF patient carrying G542X on the other allele. (pers.corr.Doerk) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011