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    Detailed info

    Owner: tordai-lab Position: exon 3 HAEUID: 140
    Nucleotide change Protein change
    Traditional: 2579_2620del42 Traditional: deletion of amino acid
    HUGO: g.3761_3802del HUGO: p.Leu146_Ala159del
    CDS: c.435_476del Effect: pathogenic
    Reference: Kalmar L et al (Hum Mutat 2003 Dec;22(6):498)
    Family history: positive No. of cases: 2
    Notes: - In frame deletion but a significant part of helix A is lost.
    - Disease-linked segregation in the family.

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