Mutation Details for c.3239A>G
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cDNA Name
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c.3239A>G
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Protein Name
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p.Lys1080Arg
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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K1080R
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Other Details
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Mutation/variant was found in unaffected
individual.
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Contributors
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Li Zhenzhong , Kawasoe J, Liu XD, Zielenski
J,
2003-06-02
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Institute
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Hospital for Sick Children, Toronto, Canada
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Submitted Phenotype Details
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Reference
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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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