Mutation Details for c.3139+42A>T
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cDNA Name
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c.3139+42A>T
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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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3271+42A/T
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Other Details
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This polymorphism has been detected once among 50 unrelated Belgian CF chromosomes.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-06-15
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Institute
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University of Leuven
Leuven, Belgium
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Submitted Phenotype Details
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The patient's genotype is F508del/1898+1G>C, the 3271+42A>T polymorphism is also present. (pers. corr. Cuppens)
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Reference
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Cuppens et al. 1993
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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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