Mutation Details for c.1393-61A>G
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cDNA Name
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c.1393-61A>G
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1525-61A/G
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Other Details
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This polymorphism was found in approximately 15% of Russian CF chromosomes. In intron 9 we have found a frequent polymorphism at position 1525-61. The change is an A to a G that destroys a FokI restriction site. The polymorphism was seen in direct sequencing of exon 10 in 7 out of 14 alleles.
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Contributors
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Ivaschenko T,
Baranov V,
Dean M
1991-12-05
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Institute
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National Institutes of Health
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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Ivaschenko et al. (NL#40)
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