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


    Detailed info

    Owner: tosi-lab Position: exon 7 HAEUID: 54
    Nucleotide change Protein change
    Traditional: 14233C>A Traditional: Ser389Stop
    HUGO: g.15415C>A HUGO: p.Ser411Stop
    CDS: c.1232C>A Effect: pathogenic
    Reference: Pappalardo et al., J Allergy Clin Immunol 2000;106:1147-54
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing. De novo.

    Add note (registered labs only)