Mutation Details for c.3276C>A
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cDNA Name
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c.3276C>A
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Protein Name
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p.Tyr1092X
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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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Y1092X(C->A)
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Other Details
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It was found in Toronto family #34 on a haplotype group IIa chromosome from the mother. It was not found in 52 other CF chromosomes nor 50 N chromosomes. The mutation destroys a RsaI site.
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Contributors
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Bozon D,
Zielenski J,
Tsui LC
1990-08-09
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Institute
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The Hospital for Sick Children
Toronto, ON, Canada
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Phenotype Information
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CFTR2
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Reference
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Bozon et al. (Nl #23)
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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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