Mutation Details for c.3291delC
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cDNA Name
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c.3291delC
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Protein Name
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p.Trp1098GlyfsX4
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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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3423delC
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Other Details
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Contributors
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Kay E,
Malone G,
Haworth A,
Schwarz M,
Robertson E
1995-02-15
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The patient, male, carries W1282X on the other allele.
(pers. corr. Schwarz)
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Reference
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Kay et al. (NL#65)
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