Mutation Details for c.3790_3799delGAAGGAGAAA

cDNA Name c.3790_3799delGAAGGAGAAA 
Protein Name p.Glu1264SerfsX11 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3922del10->C 
Other Details This complex mutation deletes 10 bp and replaces with one C residue. The net result is an in-frame deletion of 3 whole codons (1264-1266). The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other CF mutation was [delta]F508. The patient was referred by West Midlands Regional Genetics Service for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested.  
Contributors Schwarz M. Malone G, Haworth A   1996-06-24
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The male patient also carries Deltaf508 on the other allele. (pers.corr.Schwarz) 
Reference Schwarz et al. (NL#69) 

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The Database was last updated at Apr 25, 2011