Mutation Details for c.1052C>T
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cDNA Name
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c.1052C>T
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Protein Name
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p.Thr351Ile
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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T351I
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Other Details
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This mutation was identified in Polish infant during CF screening program. No other mutation was found after sequencing exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also excluded.
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Contributors
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Norek A., Sobczynnska-Tomaszewska A., Wertheim K., Czerska K, Oltarzewski M., Sabds D., Bal J.
2008-09-16
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Institute
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Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
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Submitted Phenotype Details
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IRT = 242.43[ug/l]
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Reference
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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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