Mutation Details for c.1617_1618insTA
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cDNA Name
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c.1617_1618insTA
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Protein Name
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p.Val540X
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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1749insTA
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Other Details
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This mutation was detected by DDGE and identified by direct sequencing. It is associated with a [delta]F508 in a mucoviscidosis phenotype.
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Contributors
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Dubourg C,
Blayau M,
David V
2000-08-13
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Institute
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Laboratoire de Génétique Moléculaire,
France
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Submitted Phenotype Details
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Reference
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Dubourg et al. 2000
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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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