Mutation Details for c.3857T>C
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cDNA Name
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c.3857T>C
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Protein Name
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p.Phe1286Ser
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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F1286S
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Other Details
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This mutation was detected by DGGE after amplification using primers. The mutation generated a Mn I restriction site.
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Contributors
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Dorval I,
Blayau M,
Chauvel B,
Lemarec B,
David V,
Le Gall JY
1993-01-01
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Institute
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null
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Submitted Phenotype Details
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Reference
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Dorval et al. 1993
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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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