Mutation Details for c.-495C>T
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cDNA Name
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c.-495C>T
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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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-363C/T
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Other Details
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This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in one CF patient; the mutation on the other chromosome is unknown.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C
Bjork E
1999-06-07
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Institute
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The Hospital for Sick Children
Toronto, Canada
Sahlgrenska University Hospital
Goteborg, Sweden
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Submitted Phenotype Details
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No additional clinical information available (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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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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