Mutation Details for c.597T>G
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cDNA Name
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c.597T>G
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Protein Name
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p.His199Gln
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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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H199Q
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Other Details
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This alteration does not affect a restriciton site so we are testing an ASO.
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Contributors
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Dean M,
Belle White M,
Gerrard B
1990-09-30
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Institute
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National Cancer Institute
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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Dean et al. (NL#28)
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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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