Mutation Details for c.-8G>C
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cDNA Name
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c.-8G>C
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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125G/C
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Other Details
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This change was found on one CF and seven non-CF chromosomes. The CF and six of the non-CF chromosomes have the haplotype 1-1-2-2. The remaining non-CF chromosome had the haplotype 2-1-2-2. This sequence variation was not observed on 18 non-CF chromosomes with other haplotypes. This variation destroys the unique AvaI site in exon 1.
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Contributors
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Cutting GR,
Curristin S
1990-08-07
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Institute
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Johns Hopkins Hospital
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Cutting et al. 1992
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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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