Mutation Details for c.1543T>C
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cDNA Name
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c.1543T>C
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Protein Name
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p.Tyr515His
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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Y515H
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Other Details
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Contributors
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Mittre H.,
2002-01-01
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Institute
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Caen, France
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Submitted Phenotype Details
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The mutation was identified in a 25 years old male carrying an unknown other mutation.(pers.corr. Mittre)
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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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