Mutation Details for c.3339T>C
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cDNA Name
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c.3339T>C
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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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3471T/C
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Other Details
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no change (Ala at 1113; T to C change accompanying Q1071P)
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Contributors
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Ghanem N,
Costes B,
Martin J,
Goossens M
1992-08-27
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Institute
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Universitaire Henri Mondor
Paris, France
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Submitted Phenotype Details
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Considered as a polymorphism. (pers. corr. Girodon)
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Reference
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Ghanem et al. 1994
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