Mutation Details for c.3717+1G>A
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cDNA Name
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c.3717+1G>A
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3849+1G->A
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Other Details
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This polymorphism has been detected in non-[delta]F508 chromosomes of our CF patients by DGGE and subsequent sequencing.
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Contributors
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Greil I,
Wagner K,
Rosenkranz W
1993-03-15
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Institute
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University of Graz
Harrachgasse, Austria
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Submitted Phenotype Details
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The patient (male) is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers.corr. Wagner)
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Reference
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Greil et al. 1993
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