Mutation Details for c.2600T>A

cDNA Name c.2600T>A 
Protein Name p.Leu867X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name L867X 
Other Details The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found in a Scottish CF patient whose other mutation is [delta]F508 and who was referred from the Duncan Guthrie Institute of Medical Genetics, Glasgow. We have seen L867X only once in over 100 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 Haworth A, Malone G, Schwarz M   1996-12-16
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (male) was born in July 1970. He carries DelF508 on the other allele. (pers.corr.Schwarz) 
Reference Haworth et al. (NL#69) 

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The Database was last updated at Apr 25, 2011