Mutation Details for c.1766+5G>A
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cDNA Name
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c.1766+5G>A
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+5G->A
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Other Details
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The CF patient is heterozygous for DF508 and 1898+5G->A.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1997-06-03
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Institute
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Laboratoire de Biogénétique
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Submitted Phenotype Details
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The mutation was identified in a French CF patient (male, 31y) carrying deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Férec 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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