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    Detailed info

    Owner: tordai-lab Position: exon 7 HAEUID: 134
    Nucleotide change Protein change
    Traditional: 14224A>T Traditional: Asp386Val
    HUGO: g.16106A>T HUGO: p.Asp408Val
    CDS: c.1223A>T Effect: pathogenic
    Reference: Kalmar L et al (Hum Mutat 2003 Dec;22(6):498)
    Family history: sporadic (negative) No. of cases: 0
    Notes: - Not detected among 100 control chromosomes.
    - Disease-linked segregation in the family.
    - Significant amino acid change with polarity and charge change

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