Mutation Details for c.3898T>C
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cDNA Name
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c.3898T>C
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Protein Name
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p.Phe1300Leu
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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F1300L
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Other Details
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Mutation F1300L (4030 T-C; exon 21) was identified in a normal individual. It could be a mutation or a polymorphism.
The above mutation was identified by DGGE analysis and confiremed by DNA sequencing.
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Contributors
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Poncin J
1996-08-30
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Institute
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Génétique Humaine, Centre Hôspitalier Universitaire de LIEGE,
Liege, Belgium.
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Submitted Phenotype Details
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Reference
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Poncin (NL#69)
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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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