Mutation Details for c.-887_- 885delCTC
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cDNA Name
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c.-887_- 885delCTC
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-816delCTC
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Other Details
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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.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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-816delCTC was found in a 43y M, diagnosed at 32y with CBAVD; he is PS. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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