Mutation Details for c.1177delG

cDNA Name c.1177delG 
Protein Name p.Val393X 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1309delG 
Other Details The mutation was detected by DGGE and identified by direct DNA sequencing. The mutation was found in a CF patient whose other chromosome carries [delta]F508. We have seen this mutation only once in 150 non-[delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy.  
Contributors Malone G, Haworth A, Schwarz M   1996-07-05
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The patient carries delF508 on the other allele. (pers.corr.Schwarz) 
Reference Malone et al. (NL#69) 

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The Database was last updated at Apr 25, 2011