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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 40
    Nucleotide change Protein change
    Traditional: 16822T>C Traditional: Phe455Ser
    HUGO: g.18004T>C HUGO: p.Phe477Ser
    CDS: c.1430T>C Effect: pathogenic
    Reference: Verpy et al., 1995; 95:350-359
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing.
    Only trace secretion found in transfection studies. Unable to bind C1s.

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