Mutation Details for c.3140-4A>G
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cDNA Name
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c.3140-4A>G
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3272-4A->G
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Other Details
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This mutation is probably an mRNA splicing mutation in intron 17a - 3272-4A->G. We have screened 100 CF heterozygotes (parents of CF patients) for this particular sequence variation and have not found any other sample with this mutation, indicating that it is not a polymorphism. The CF patient with the mutation is compound heterozygous with R117H on ther other allele.
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Contributors
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Kanvakis
1994-07-13
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Institute
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Athens University
Athens, Greec
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Submitted Phenotype Details
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The male CF patient diagnosed when 8 years old, died at 22 years of age. He was PI, had sweat chloride 105 mmol/l and severe lung disease with FEV1 18% and Pseudomonas Aeruginosa infections. He carried R117H (pers. corr. Tzetis)
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Reference
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Kanvakis (NL#63)
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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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