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    Detailed info

    Owner: tordai-lab Position: exon 8 HAEUID: 135
    Nucleotide change Protein change
    Traditional: 16810T>A Traditional: Val451Glu
    HUGO: g.17992T>A HUGO: p.Val473Glu
    CDS: c.1418T>A Effect: pathogenic
    Reference: Kalmar L et al (Hum Mutat 2003 Dec;22(6):498)
    Family history: sporadic (negative) No. of cases: 0
    Notes: - Highly conserved amino acid, significant amino acid change with polarity change
    - Disease causing mutations already described in this position (Val451Met, Val451Gly)
    - De novo mutation

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