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    Detailed info

    Owner: MedGenetics-lab Position: exon 2 HAEUID: 312
    Nucleotide change Protein change
    Traditional: 229T>C Traditional: p.Met-22Thr
    HUGO: g. HUGO: p.Met1Thr
    CDS: c.2T>C Effect: pathogenic
    Reference: Ann Hum Genet. 2014 Mar;78(2):73-82.
    Family history: sporadic (negative) No. of cases: 0
    Notes: DNA sequencing

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