Mutation Details for c.3080T>C
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cDNA Name
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c.3080T>C
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Protein Name
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p.Ile1027Thr
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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I1027T
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Other Details
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Leu or Phe at 997 and Ile or Thr at 1027. 3123G/C & 3212T/C were reported as polymorphisms by Fanen et al. in 1992
T to C at 3212 was also reported as I1027T (Ile to Thr at 1027) by Andrew et al. on 2001-01-25. This was seen in a CF patient whose other mutation is [delta]F508.
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Contributors
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Fanen
1992-01-01
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Institute
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Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Fanen et al. 1992
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