Mutation Details for c.3353C>G
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cDNA Name
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c.3353C>G
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Protein Name
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p.Ser1118Cys
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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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S1118C
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Other Details
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The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Canadian CBAVD patient (second mutation: [delta]F508).
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Vaze D
1999-03-04
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Health Science Centre,
Janeway Child Health Care,
St. John's Canada
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Submitted Phenotype Details
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The mutation was found in a CBAVD patient, carrying delta F508 on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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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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