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    Detailed info

    Owner: tosi-lab Position: exon 3 HAEUID: 18
    Nucleotide change Protein change
    Traditional: 2650T>C Traditional: Phe147Ser
    HUGO: g.3472T>C HUGO: p.Phe169Ser
    CDS: c.146T>C Effect: pathogenic
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: positive No. of cases: 2
    Notes: Method: FAMA followed by sequencing

    Affects conserved residue

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