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    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 204
    Nucleotide change Protein change
    Traditional: 16777T>G Traditional: Ile440Ser
    HUGO: g.17959T>G HUGO: p.Ile462Ser
    CDS: c.1385T>G Effect: pathogenic
    Reference: J Allergy Clin Immunol 2006, 118: 1330-1335
    Family history: positive No. of cases: 0
    Notes: This mutation is detected in homozygosis in two relatives (Phenotype HAE type I). One is without symptoms.
    There are 6 heterozygous relatives without clinical symptoms and with a phenotype type II

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