Mutation Details for c.163_164ins8

cDNA Name c.163_164ins8 
Protein Name p.Arg55AsnfsX39 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 295ins8 
Other Details The 8bp insertion was identified in a German CF patient heterozygous for the insertion and for [delta]F508. 
Contributors Dörk T, El-Harith E-H A, Schmidtke J, Stuhrmann M   1996-11-21
Institute Institut fur Humangenetik, Medizinische Hachschule Hannover, Hannover, Germany 
Submitted Phenotype Details The patient (female) has CF and carries delF508 on the other allele. (pers.corr. Dork) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011