Mutation Details for c.3368-140A>C
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cDNA Name
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c.3368-140A>C
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Exon or Intron
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intron 20
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Legacy Exon or Intron
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intron 17b
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3500-140A/C
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Other Details
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This polymorphism was detected by SSCP in 8 of 72 (0.11) normal chromosomes. Among CF chromosomes, the polymorphism was detected in 0 of 20 chromosomes from [delta]F508 homozygotes, 5 of 14 (0.36) chromosomes from [delta]/non-[delta]F508 heterozygotes, and 7 of 12 chromosomes (0.58) from non-[delta]F508/non-[delta]F508 homozygotes.
Based on this data, we believe that this intron 17 B polymorphism is a good marker for non-[delta]F508 mutations in CF patients.
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Contributors
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Parad RB,
Gerard C
1992-01-17
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Institute
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Harvard Medical School
Boston, MA, USA
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Submitted Phenotype Details
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Reference
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Parad & Gerard 1992
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