Mutation Details for c.-887_- 885delCTC

cDNA Name c.-887_- 885delCTC 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -816delCTC 
Other Details This microdeletion is located in the promoter region, at a site which is not known to bind a transcription factor. Another mutation has already been described by Bienvenu et al. as a putative promoter mutation at this location, -816C->T. -816delCTC has been found in a CBAVD patient in whom no other anomaly has been detected after complete analysis of the coding sequence by DGGE analysis, and screening for 3849+10kbC->T. It was found once among 50 non identified CBAVD chromosomes. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details -816delCTC was found in a 43y M, diagnosed at 32y with CBAVD; he is PS. (pers. corr. Girodon) 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011