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

    Detailed info

    Owner: tosi-lab Position: exon 1 HAEUID: 15
    Nucleotide change Protein change
    Traditional: 566T>C Traditional: variant in 5' untranslated region
    HUGO: g.1748T>C HUGO: p.-
    CDS: c.-21G>A Effect: unknown
    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

    Found associated with missense mutation in exon 3

    Add note (registered labs only)