Mutation Details for c.1582G>A
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cDNA Name
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c.1582G>A
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Protein Name
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p.Glu528Lys
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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E528K
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Other Details
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The mutation was identified in Polish child during CF newborn screening programme.
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Contributors
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Wertheim Katarzyna, Sobczyńska-Tomaszewska Agnieszka, Ołtarzewski Mariusz, Bal Jerzy
2008-03-04
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Institute
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Institute of Mother and Child,
Dept of Medical Genetics
Poland
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Submitted Phenotype Details
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I-IRT (CF newborn screening) = 171μg/L, II-IRT = 106,99μg/L No other mutation found after sequencing of exons:7, 10, 11, 13, 21. Mutations 3849+10kb C>T , dele2,3(21kb), R117H were also excluded.
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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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