Mutation Details for c.490-2A>C
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cDNA Name
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c.490-2A>C
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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622-2A->C
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Other Details
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This mutation was detected once among 47 Belgian non-[delta]F508 CF chromosomes and is associated with haplotype XV2c/CS7/KM19/D9:1111.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1991-09-20
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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 mutation was identified in a patient carrying G542X on the other allele. No additional clinical info is available. (pers. corr. De Boeck)
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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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