Mutation Details for c.580-1G>T

cDNA Name c.580-1G>T 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 712-1G->T 
Other Details This mutation was detected by SSCP analysis, followed by direct sequencing and it can be detected by restriction enzyme analysis because it destroys a ScrfI site. Mutation 712-1G->T was found in 2/50 unrelated Spanish CF non-[delta]F508 chromosomes. 
Contributors Chillon M, Nunes V, Casals T, Estivill X   1993-09-09
Institute Institut de Recerca Oncologica 
Phenotype Information CFTR2
Reference Chill√≥n et al. (NL#59) 

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The Database was last updated at Apr 25, 2011