Mutation Details for c.4226A>T
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cDNA Name
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c.4226A>T
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Protein Name
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p.Glu1409Val
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1409V
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Other Details
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This mutation was detected by DGGE in exon 23 from a patient from southern France. The substitution was not found in 150 normal chromosomes. It destroys a BsmI restriction site.
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Contributors
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Claustres M,
Giensily M,
Laussel M,
Razakaizara G
1993-05-06
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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This individual is NOT a CF patient, but a carrier.
No other mutations were found.
(Pers. corr. Claustres)
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Reference
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Claustres et al. (NL#55)
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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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