Mutation Details for c.1393-47T>G
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cDNA Name
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c.1393-47T>G
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1525-47T->G
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Other Details
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This nucleotide change was identified in Polish infant during CF newborn screening program. No other mutation was found after sequencing of 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., Sobczynska-Tomaszewska A., Wertheim K., Czerska K, OĊtarzewski M., Sands D., Bal J.
2008-05-01
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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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1.IRT = 1485 [ug/l]
2.IRT = 39.16 [ug/l]
No CF symptoms
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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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