Mutation Details for c.-593A>G
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cDNA Name
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c.-593A>G
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-461A->G
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Other Details
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This variation has been identified in one healthy child.
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Contributors
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Nadja Bogdanova, Bernd Dworniczak, Jurgen Horst
2004-06-16
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Institute
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Institute of Human Genetics, University of Muenster, Germany
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Submitted Phenotype Details
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This variant has been detected using sequencing analysis in a spouse of a heterozygous carrier of F508del. In an attempt to clarify a (possible) pathogenic effect of the mutation, we analyzed three healthy offsprings of the couple. One of them (a 12 years old girl is compound heterozygous for F508del and c. -461A>G..
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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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