Mutation Details for c.2390_2391insC

cDNA Name c.2390_2391insC 
Protein Name p.Gln799SerfsX6 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2522insC 
Other Details This frameshift mutation was identified in a single patient from Naples with C/D haplotypes. The mutation is an insertion of a C residue within a stretch of 4 Cs found at position 2522. The mutation will be referred to as 2522insC. The mutation was detected on SSCP gels following amplification with primers CF-17 and CF-8. The mutation destroys a BgI site and can be detected this way. The mutation was not found in 10 other non-[delta]F chromosomes from Naples. 
Contributors Dean M, Gerrard B, Sebastio G   1990-07-16
Institute National Cancer Institute Frederick, MD, USA 
Submitted Phenotype Details  
Reference White et al. 1991a 

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The Database was last updated at Apr 25, 2011