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    Detailed info

    Owner: tosi-lab Position: exon 5 HAEUID: 24
    Nucleotide change Protein change
    Traditional: 8346T>C Traditional: Phe214Ser
    HUGO: g.9528T>C HUGO: p.Phe236Ser
    CDS: c.717T>C Effect: unknown
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: unknown No. of cases: 0
    Notes: Method: FAMA followed by sequencing

    Probably pathogenic because all exons screened and highly conserved amino acid in serpins

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