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

    Detailed info

    Owner: tosi-lab Position: exon 2 HAEUID: 13
    Nucleotide change Protein change
    Traditional: 589_596dup8bp Traditional: frameshift
    HUGO: g.1771_1778dup HUGO: p.Arg4fs
    CDS: c.3_10dup Effect: pathogenic
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: positive No. of cases: 0
    Notes: Method: FAMA followed by sequencing

    mutation found in three affected family members

    Add note (registered labs only)