Mutation Details for c.1399C>T
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cDNA Name
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c.1399C>T
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Protein Name
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p.Leu467Phe
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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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1531C/T (L467F)
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Other Details
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Leu or Phe at 467
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Contributors
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Ghanem N,
Costes B,
Fanen P,
Goossens M
1992-02-17
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Institute
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Centre Hospitalier Universitaire Henri Mondor
Paris, France
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Submitted Phenotype Details
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No additional clinical data available. (pers. corr. Girodon)
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Reference
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Ghanem et al. (NL#42)
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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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