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1.

rs28942108 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    18:23538651 (GRCh38)
    18:21118615 (GRCh37)
    Canonical SPDI:
    NC_000018.10:23538650:G:A,NC_000018.10:23538650:G:T
    Gene:
    NPC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    pathogenic,pathogenic-likely-pathogenic,likely-pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.0000828/3 (ALFA)
    A=0.0000038/1 (TOPMED)
    A=0.0000093/13 (GnomAD_exomes)
    A=0.0000165/2 (ExAC)
    HGVS:
    NC_000018.10:g.23538651G>A, NC_000018.10:g.23538651G>T, NC_000018.9:g.21118615G>A, NC_000018.9:g.21118615G>T, NG_012795.2:g.52855C>T, NG_012795.2:g.52855C>A, NG_012795.1:g.52967C>T, NG_012795.1:g.52967C>A, NM_000271.5:c.2932C>T, NM_000271.5:c.2932C>A, NM_000271.4:c.2932C>T, NM_000271.4:c.2932C>A, XM_005258278.6:c.2983C>T, XM_005258278.6:c.2983C>A, XM_005258278.5:c.2983C>T, XM_005258278.5:c.2983C>A, XM_005258278.4:c.2983C>T, XM_005258278.4:c.2983C>A, XM_005258278.3:c.2983C>T, XM_005258278.3:c.2983C>A, XM_005258278.2:c.2983C>T, XM_005258278.2:c.2983C>A, XM_005258278.1:c.2983C>T, XM_005258278.1:c.2983C>A, XM_006722479.4:c.2983C>T, XM_006722479.4:c.2983C>A, XM_006722479.3:c.2983C>T, XM_006722479.3:c.2983C>A, XM_006722479.2:c.2983C>T, XM_006722479.2:c.2983C>A, XM_006722479.1:c.2983C>T, XM_006722479.1:c.2983C>A, XM_005258279.3:c.2932C>T, XM_005258279.3:c.2932C>A, XM_005258279.2:c.2932C>T, XM_005258279.2:c.2932C>A, XM_005258279.1:c.2932C>T, XM_005258279.1:c.2932C>A, XM_017025786.2:c.2932C>T, XM_017025786.2:c.2932C>A, XM_017025786.1:c.2932C>T, XM_017025786.1:c.2932C>A, XM_017025787.2:c.2932C>T, XM_017025787.2:c.2932C>A, XM_017025787.1:c.2932C>T, XM_017025787.1:c.2932C>A, XM_017025784.1:c.2983C>T, XM_017025784.1:c.2983C>A, XM_017025785.1:c.2983C>T, XM_017025785.1:c.2983C>A, XM_047437539.1:c.2932C>T, XM_047437539.1:c.2932C>A, XM_005258277.1:c.2983C>T, XM_005258277.1:c.2983C>A, NP_000262.2:p.Arg978Cys, NP_000262.2:p.Arg978Ser, XP_005258335.1:p.Arg995Cys, XP_005258335.1:p.Arg995Ser, XP_006722542.1:p.Arg995Cys, XP_006722542.1:p.Arg995Ser, XP_005258336.1:p.Arg978Cys, XP_005258336.1:p.Arg978Ser, XP_016881275.1:p.Arg978Cys, XP_016881275.1:p.Arg978Ser, XP_016881276.1:p.Arg978Cys, XP_016881276.1:p.Arg978Ser, XP_016881273.1:p.Arg995Cys, XP_016881273.1:p.Arg995Ser, XP_016881274.1:p.Arg995Cys, XP_016881274.1:p.Arg995Ser, XP_047293495.1:p.Arg978Cys, XP_047293495.1:p.Arg978Ser, XP_005258334.1:p.Arg995Cys, XP_005258334.1:p.Arg995Ser

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