Mutation Details for c.4046G>A
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cDNA Name
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c.4046G>A
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Protein Name
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p.Gly1349Asp
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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G1349D
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Other Details
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We tested 20 non-[delta]F508 CF chromosomes and did not find a second example of this mutation. The mutation destroys an NcoI site.
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Contributors
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Kobayashi K,
Beaudet Al
1990-03-20
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Institute
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Baylor College of Medicince
Houston, TX, USA
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Submitted Phenotype Details
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No additional clinical info is available.
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Reference
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Beaudet et al. 1991
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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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