Mutation Details for c.4417G>T
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cDNA Name
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c.4417G>T
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Protein Name
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p.Glu1473X
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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E1473X
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The mutation was found in a 31y M, diagnosed at 28y with CBAVD, PS, no pulmonary symptoms, carrying 1342-6(5T) on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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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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