Mutation Details for c.1418delG

cDNA Name c.1418delG 
Protein Name p.Gly473GlufsX54 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1548delG 
Other Details frameshift mutation 1548delG was detected in a Saudi-Arabian CF family where the father carried 1548delG and the mother N1303K. 
Contributors Dörk T, El-Harith E-H A, Schmidtke J, Stuhrmann M   1996-11-21
Institute Institut fur Humangenetik, Medizinische Hachschule Hannover, Hannover, Germany 
Phenotype Information CFTR2
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011