Mutation Details for c.3564G>A
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cDNA Name
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c.3564G>A
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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3696G/A
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Other Details
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The polymorphism was detected by SSCP analysis and identified by direct DNA sequencing. The polymorphism was found in a possible cystic fibrosis patient from Singapore (ethnic origin unknown) who has no mutations identified. We have seen this polymorphism only once in over 200 non-[delta]F508 chromosomes screened.
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Contributors
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Malone G M
Andrew N,
Schwarz M
1999-02-11
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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One female patient carries the 3696G/A polymorphism.
(pers. corr. Schwarz)
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Reference
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Malone et al. 1999
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