Mutation Details for c.627A>G
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cDNA Name
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c.627A>G
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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759A/G (A209A))
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Other Details
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This polymorphism were found by DGGE and direct DNA sequencing in a CF patient.
This polymorphism was also reported in a Scottish CF patient who is heterozygous for [delta]F508 and whose second mutation is as yet unidentified, by Andrew et al. on 22/12/1999.
It was also found in a CF patient by Férec et al., 20/12/2000
It was also reported in a CBAVD patient (heterozygous with [delta]F508) by Shaw et al. 28/11/2001
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Contributors
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Casals T,
Ramos M D,
Jimenez J,
Nunes V,
Estivill X
1998-12-31
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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No additional phenotype details are available.
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Reference
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Casals et al. 1998
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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