Mutation Details for c.-226G>T
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cDNA Name
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c.-226G>T
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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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-94G->T
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Other Details
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This presumed promoter mutation was found by DGGE and identified by DNA sequencing in a CF patient from South Africa. No other mutation was detected for this patient. It destroys an AvaII restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgeorges M,
Ramsay M
1997-08-04
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Institute
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Institut de Biologie
Montpellier
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Submitted Phenotype Details
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The female South-African patient has chronic lung disease and positive sweat chloride, and is PS. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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