Mutation Details for c.3391A>G
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cDNA Name
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c.3391A>G
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Protein Name
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p.Ile1131Val
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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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3523A->G
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Other Details
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This variant was found by DGGE analysis and characterized by DNA sequencing. It was found in a sample of 100 CFTR genes from 50 apparently healthy random individuals from Central Italy.
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Contributors
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Giorgi S,
Ciminelli B M,
Tandoi C,
Modiano G
1999-06-17
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Institute
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Department of Biology
Tor Vergata University,
Rome, Italy
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Submitted Phenotype Details
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The mutation was identified in an adult male patient studied for thalasemia carrying M470V on the other allele. (pers. corr. Giorgi)
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Reference
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Giorgi et al. 1999
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