Mutation Details for c.658C>T
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cDNA Name
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c.658C>T
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Protein Name
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p.Gln220X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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Q220X
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Other Details
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This mutation was intially detected by SSCP, and then identified by sequence analysis. The patient has a [delta]F508 on the other chromosome. This mutation was not found on 70 other non-[delta]F508 CF chromosomes.
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Contributors
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Shackelton S,
Harris A
1992-10-22
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Institute
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University of Oxford
Oxford, England
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Phenotype Information
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CFTR2
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Reference
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Shackleton et al. 1994; Schwartz & Holmberg (NL#50)
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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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