Mutation Details for c.3161A>T
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cDNA Name
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c.3161A>T
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Protein Name
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p.His1054Leu
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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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H1054 L
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Other Details
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This mutation was detected by exon 17b DGGE and sequencing in one healthy Portuguese
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Contributors
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Pacheco P., Loureiro P., Silva C.
2006-05-12
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Institute
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Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal
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Submitted Phenotype Details
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This mutation was found in a healthy adult Portuguese female, detected in a cascade carrier screening.
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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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