Mutation Details for c.1680-136A>G
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cDNA Name
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c.1680-136A>G
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1812-136T/C
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Other Details
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The polymorphism was found in the CFTR gene by direct sequencing*. (curator's note: the original submission reports T>C change however, the refence sequence reads A, therefore possible incorrect orientation if sequence direction might have caused the discrepancy)
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Contributors
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Michel-Calemard L,
Bey Omar F,
Morel Y
1996-07-10
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Institute
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Service de Biochimie Endocrinienne et Moléculaire,
Hopital Debrousse
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Submitted Phenotype Details
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Reference
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Michel-Calemard et al. (NL#69)
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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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