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


    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 10
    Nucleotide change Protein change
    Traditional: 16742-16743insA Traditional: Glu429frameshift stop 450
    HUGO: g.17924_17928insA HUGO: p.Glu451fs
    CDS: c.1350_1351insA 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)