Mutation Details for c.2846A>G
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cDNA Name
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c.2846A>G
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Protein Name
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p.His949Arg
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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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H949R
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Other Details
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The above mutation was found by DGGE and direct sequencing in Caucasian patients.
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Contributors
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Férec C,
Quere I,
Verlingue C,
Raguenes O,
Audrézet M-P,
Mercier B
1995-02-14
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Institute
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Centre de Transfusion sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The mutation was found in a male with CBAVD carrying G542X on the other allele.(pers.corr. Ferec)
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Reference
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Férec et al. (NL#65)
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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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