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


    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 5
    Nucleotide change Protein change
    Traditional: 16861T>A Traditional: Val468Asp
    HUGO: g.18043T>A HUGO: p.Val490Asp
    CDS: c.1469T>A Effect: pathogenic
    Reference: Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6)
    Family history: positive No. of cases: 0
    Notes: Direct sequencing exon 8

    Add note (registered labs only)