Mutation Details for c.1687T>A
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cDNA Name
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c.1687T>A
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Protein Name
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p.Tyr563Asn
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y563N
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Other Details
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This mutation is found in a single family with 2 PS patients, but the mutation in the other chromosome is unknown.
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Contributors
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Kerem B,
Zielenski J,
Bozon D,
Tsui LC
1990-04-05
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Institute
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The Hospital for Sick Children
Toronto, ON, Canada
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Submitted Phenotype Details
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Reference
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Kerem et al. (NL #13)
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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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