Mutation Details for c.1663A>G
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cDNA Name
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c.1663A>G
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Protein Name
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p.Arg555Gly
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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R555G
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Other Details
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This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in one Native Canadian CF patient (second mutation: Y1307X).
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Montgomery M
1999-03-04
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Alberta Children's Hospital,
Calgary, Canada
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Submitted Phenotype Details
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No additional clinical data available. See original note. (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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