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    Detailed info

    Owner: admin Position: exon 6 HAEUID: 151
    Nucleotide change Protein change
    Traditional: 8755A>G Traditional: Thr286Ala
    HUGO: g.9937A>G HUGO: p.Thr308Ala
    CDS: c.922A>G Effect: pathogenic
    Reference: Cumming SA et al (J Med Genet. 2003 Oct;40(10):e114)
    Family history: sporadic (negative) No. of cases: 0
    Notes: Reported as Thr285Ala, in which the amino acid position is incorrect

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