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    Detailed info

    Owner: tordai-lab Position: exon 8 HAEUID: 136
    Nucleotide change Protein change
    Traditional: 16885C>G Traditional: Pro476Arg
    HUGO: g.18067C>G HUGO: p.Pro498Arg
    CDS: c.1493T>A 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.
    - Highly conserved amino acid, significant amino acid change with polarity change
    - Disease causing mutation already described in this position (Pro476Ser)

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