Mutation Details for c.349C>T
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cDNA Name
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c.349C>T
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Protein Name
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p.Arg117Cys
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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R117C
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Other Details
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The haplotype is 2-1-1-2 (XV2c-KM19-D9-J44) with seven GATT repeats. The mutation creates a new Bsml site.
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Contributors
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Dork T,
Kalin N,
Tummler B
1992-02-29
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Institute
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Medizinische Hochschule Hannover
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Phenotype Information
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CFTR2
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Reference
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Dörk et al. 1994b
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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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