Mutation Details for c.3927G>T
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cDNA Name
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c.3927G>T
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Protein Name
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p.Gln1309His
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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Q1309H
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Other Details
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The mutation was identified in a CBAVD patient in cis with 4041_4046insTGT. Whether the two anomalies are related to the same mutational event was not sought.
The complex allele was inherited from the mother. D1152H was identified in trans.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Isolated CBAVD
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Reference
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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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