Mutation Details for c.2723C>A
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cDNA Name
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c.2723C>A
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Protein Name
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p.Thr908Asn
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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T908N
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Other Details
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Found by DGGE and DNA sequencing.
(CBAVD patient, genotype [delta]F508/T908N)
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1996-12-30
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Institute
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Laboratoire de Biogénétique,
University of Brest,
Brest, France
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Submitted Phenotype Details
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CBAVD patient carrying deltaF508 on the other allele. (pers.corr. Ferec)
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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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