Mutation Details for c.1727G>C

cDNA Name c.1727G>C 
Protein Name p.Gly576Ala 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name G576A 
Other Details The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in a 45 year-old male with absence of the vas deferens, who also has [delta]F508. We have seen it only once, in over 100 non-[delta]F508 chromosomes screened, in this man referred by the Oxford Medical Genetics Laboratories (UK). The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy. 
Contributors Sarginson J, Malone G, Haworth A, Schwarz M   1996-08-13
Institute Royal Manchester Children's Hospital, England 
Phenotype Information CFTR2
Reference Sarginson et al. (NL#69) 

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The Database was last updated at Apr 25, 2011