Mutation Details for c.494delT
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cDNA Name
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c.494delT
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Protein Name
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p.Leu165X
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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624delT
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Other Details
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A deletion of T was identified at position 624 in exon 5. This deletion could be located also at position 625 or 626. This deletion was identified on a Russian CF chromosome in collaboration with Dr Kapranov.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-02-19
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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the mutation was identified in a Russian CF patient. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#53)
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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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