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1.

rs397509425 [Homo sapiens]
    CATCCTGAGCCCTGCAGTGCTGCAG[C/T]GCATCCAGGTGTGTAGGAGACAGCT
    Chromosome:
    3:49722604
    Gene:
    GMPPB (GeneView)
    Functional Consequence:
    missense
    Allele Origin:
    T(germline)/C(germline)
    Clinical significance:
    Pathogenic
    Validated:
    by cluster,by frequency
    HGVS:
    NC_000003.11:g.49760037G>A, NC_000003.12:g.49722604G>A, NG_011603.1:g.38048G>A, NG_033731.1:g.6371C>T, NM_013334.3:c.553C>T, NM_021971.2:c.553C>T, NP_037466.2:p.Arg185Cys, NP_068806.1:p.Arg185Cys, XM_005265096.1:c.553C>T, XP_005265153.1:p.Arg185Cys

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