Mutation Details for c.1029_1030insG

cDNA Name c.1029_1030insG 
Protein Name p.Ile344AspfsX20 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1161insG 
Other Details The above mutation was identified by SSCP followed by direct sequencing in a German CF patient with [delta]F508 on the other chromosome. The mutation was not found on 47 other non-[delta]F508 CF chromosomes. 
Contributors Varon R, Reis A   1995-09-21
Institute Virchow-Klinikum, Berlin 
Submitted Phenotype Details  
Reference Varon R, Reis A (NL#67) 

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The Database was last updated at Apr 25, 2011