Mutation Details for c.325_327delTATinsG
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cDNA Name
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c.325_327delTATinsG
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Protein Name
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p.Tyr109GlyfsX4
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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457TAT->G
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Other Details
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This variation creates a Sau restriction site. This variation was found on one Yugoslavian chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Mercier B,
Audrezet MP,
Guillermit H
1992-06-12
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Audrézet et al. (NL #46)
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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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