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1.

rs267606575 [Homo sapiens]
    CGAGGTGCTGGACCACTGCTCTTCC[A/G]TCCTCAACAAGTACGACGGTGAGCA
    Chromosome:
    11:67490439
    Gene:
    AIP (GeneView) MIR6752 (GeneView)
    Functional Consequence:
    downstream variant 500B,missense
    Allele Origin:
    G(unknown)/A(germline,unknown)
    Clinical significance:
    Likely pathogenic
    Validated:
    no info
    HGVS:
    NC_000011.10:g.67490439A>G, NC_000011.9:g.67257910A>G, NG_008969.1:g.12406A>G, NM_001302959.1:c.592A>G, NM_001302960.1:c.769A>G, NM_003977.2:c.769A>G, NM_003977.3:c.769A>G, NP_001289888.1:p.Ile198Val, NP_001289889.1:p.Ile257Val, NP_003968.2:p.Ile257Val, NP_003968.3:p.Ile257Val, NR_106810.1:n.195A>G

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