Mutation Details for c.1731C>T

cDNA Name c.1731C>T 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y577Y (1863C/T) 
Other Details The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen on the normal chromosome of a father of a CF patient. We have seen it 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.(Original note Larder et al. 28/05/1997) NL#69 The 1863C/T was also reported as a polymorphism by Ferec et al. in January 1998 (01/01/1998).  
Contributors Larder R, Byrne K, Malone G, Haworth A, Schwarz M    1997-05-28
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details Y577Y was identified in a Canadian CF patient (pers.corr. Ferec) 
Reference Larder et al. (NL#69) 

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The Database was last updated at Apr 25, 2011