Mutation Details for c.3140-1G>A
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cDNA Name
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c.3140-1G>A
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3272-1G->A
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Other Details
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This mutation was found in two CF patients originating from Belgium. The two mutations have been found on one CF chromosomes after DGGE screening and DNA sequencing. The first is a nucleotide change at the 5' splice site consensus sequence (3272-1 G->A). The second is a nucleotide change at position 3286 T->G leading to F1052V amino acid change.
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Contributors
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Lissens W,
Bonduelle M,
Liebaers I
Audrezet MP,
Mercier B,
Ferec C
1992-01-03
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a Belgian CF patient.No clinical data available. (pers. corr. Ferec)
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Reference
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Mercier et al. 1993b
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