Mutation Details for c.3617C>G
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cDNA Name
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c.3617C>G
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Protein Name
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p.Ser1206X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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S1206X
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Other Details
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The mutation was dentified by DGGE and direct sequencing.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1996-09-12
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Institute
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Laboratoire de Biogénétique, Brest, France
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Phenotype Information
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CFTR2
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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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