> Home    > Search    > Mailing List    > Info on HAE    > Login 

    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 1
    Nucleotide change Protein change
    Traditional: 16770T>C Traditional: Ser438Pro
    HUGO: g.17952T>C HUGO: p.Ser460Pro
    CDS: c.1378T>C Effect: pathogenic
    Reference: Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6)
    Family history: sporadic (negative) No. of cases: 0
    Notes: Direct Sequencing of Exon 8

    Add note (registered labs only)