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Items: 5

1.

rs523747 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    10:13124076 (GRCh38)
    10:13166076 (GRCh37)
    Canonical SPDI:
    NC_000010.11:13124075:G:A,NC_000010.11:13124075:G:C,NC_000010.11:13124075:G:T
    Gene:
    OPTN (Varview)
    Functional Consequence:
    stop_gained,missense_variant,coding_sequence_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.001697/387 (ALFA)
    T=0./0 (KOREAN)
    A=0.006871/44 (1000Genomes)
    A=0.007192/1009 (GnomAD)
    A=0.007567/2003 (TOPMED)
    A=0.011069/871 (PAGE_STUDY)
    A=0.018293/6 (HapMap)
    HGVS:
    NC_000010.11:g.13124076G>A, NC_000010.11:g.13124076G>C, NC_000010.11:g.13124076G>T, NC_000010.10:g.13166076A>G, NC_000010.10:g.13166076A>C, NC_000010.10:g.13166076A>T, NG_012876.1:g.28995G>A, NG_012876.1:g.28995G>C, NG_012876.1:g.28995G>T, NM_021980.4:c.964G>A, NM_021980.4:c.964G>C, NM_021980.4:c.964G>T, NM_001008212.2:c.964G>A, NM_001008212.2:c.964G>C, NM_001008212.2:c.964G>T, NM_001008212.1:c.964G>A, NM_001008212.1:c.964G>C, NM_001008212.1:c.964G>T, NM_001008211.1:c.964G>A, NM_001008211.1:c.964G>C, NM_001008211.1:c.964G>T, NM_001008213.1:c.964G>A, NM_001008213.1:c.964G>C, NM_001008213.1:c.964G>T, NP_068815.2:p.Glu322Lys, NP_068815.2:p.Glu322Gln, NP_068815.2:p.Glu322Ter, NP_001008213.1:p.Glu322Lys, NP_001008213.1:p.Glu322Gln, NP_001008213.1:p.Glu322Ter, NP_001008212.1:p.Glu322Lys, NP_001008212.1:p.Glu322Gln, NP_001008212.1:p.Glu322Ter, NP_001008214.1:p.Glu322Lys, NP_001008214.1:p.Glu322Gln, NP_001008214.1:p.Glu322Ter

    PubMedLitVar

    2.

    rs117791189 has merged into rs523747 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      10:13124076 (GRCh38)
      10:13166076 (GRCh37)
      Canonical SPDI:
      NC_000010.11:13124075:G:A,NC_000010.11:13124075:G:C,NC_000010.11:13124075:G:T
      Gene:
      OPTN (Varview)
      Functional Consequence:
      stop_gained,missense_variant,coding_sequence_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.001697/387 (ALFA)
      T=0./0 (KOREAN)
      A=0.006871/44 (1000Genomes)
      A=0.007192/1009 (GnomAD)
      A=0.007567/2003 (TOPMED)
      A=0.011069/871 (PAGE_STUDY)
      A=0.018293/6 (HapMap)
      HGVS:
      NC_000010.11:g.13124076G>A, NC_000010.11:g.13124076G>C, NC_000010.11:g.13124076G>T, NC_000010.10:g.13166076A>G, NC_000010.10:g.13166076A>C, NC_000010.10:g.13166076A>T, NG_012876.1:g.28995G>A, NG_012876.1:g.28995G>C, NG_012876.1:g.28995G>T, NM_021980.4:c.964G>A, NM_021980.4:c.964G>C, NM_021980.4:c.964G>T, NM_001008212.2:c.964G>A, NM_001008212.2:c.964G>C, NM_001008212.2:c.964G>T, NM_001008212.1:c.964G>A, NM_001008212.1:c.964G>C, NM_001008212.1:c.964G>T, NM_001008211.1:c.964G>A, NM_001008211.1:c.964G>C, NM_001008211.1:c.964G>T, NM_001008213.1:c.964G>A, NM_001008213.1:c.964G>C, NM_001008213.1:c.964G>T, NP_068815.2:p.Glu322Lys, NP_068815.2:p.Glu322Gln, NP_068815.2:p.Glu322Ter, NP_001008213.1:p.Glu322Lys, NP_001008213.1:p.Glu322Gln, NP_001008213.1:p.Glu322Ter, NP_001008212.1:p.Glu322Lys, NP_001008212.1:p.Glu322Gln, NP_001008212.1:p.Glu322Ter, NP_001008214.1:p.Glu322Lys, NP_001008214.1:p.Glu322Gln, NP_001008214.1:p.Glu322Ter

      3.

      rs60555838 has merged into rs523747 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        10:13124076 (GRCh38)
        10:13166076 (GRCh37)
        Canonical SPDI:
        NC_000010.11:13124075:G:A,NC_000010.11:13124075:G:C,NC_000010.11:13124075:G:T
        Gene:
        OPTN (Varview)
        Functional Consequence:
        stop_gained,missense_variant,coding_sequence_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.001697/387 (ALFA)
        T=0./0 (KOREAN)
        A=0.006871/44 (1000Genomes)
        A=0.007192/1009 (GnomAD)
        A=0.007567/2003 (TOPMED)
        A=0.011069/871 (PAGE_STUDY)
        A=0.018293/6 (HapMap)
        HGVS:
        NC_000010.11:g.13124076G>A, NC_000010.11:g.13124076G>C, NC_000010.11:g.13124076G>T, NC_000010.10:g.13166076A>G, NC_000010.10:g.13166076A>C, NC_000010.10:g.13166076A>T, NG_012876.1:g.28995G>A, NG_012876.1:g.28995G>C, NG_012876.1:g.28995G>T, NM_021980.4:c.964G>A, NM_021980.4:c.964G>C, NM_021980.4:c.964G>T, NM_001008212.2:c.964G>A, NM_001008212.2:c.964G>C, NM_001008212.2:c.964G>T, NM_001008212.1:c.964G>A, NM_001008212.1:c.964G>C, NM_001008212.1:c.964G>T, NM_001008211.1:c.964G>A, NM_001008211.1:c.964G>C, NM_001008211.1:c.964G>T, NM_001008213.1:c.964G>A, NM_001008213.1:c.964G>C, NM_001008213.1:c.964G>T, NP_068815.2:p.Glu322Lys, NP_068815.2:p.Glu322Gln, NP_068815.2:p.Glu322Ter, NP_001008213.1:p.Glu322Lys, NP_001008213.1:p.Glu322Gln, NP_001008213.1:p.Glu322Ter, NP_001008212.1:p.Glu322Lys, NP_001008212.1:p.Glu322Gln, NP_001008212.1:p.Glu322Ter, NP_001008214.1:p.Glu322Lys, NP_001008214.1:p.Glu322Gln, NP_001008214.1:p.Glu322Ter

        4.

        rs17856957 has merged into rs523747 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          10:13124076 (GRCh38)
          10:13166076 (GRCh37)
          Canonical SPDI:
          NC_000010.11:13124075:G:A,NC_000010.11:13124075:G:C,NC_000010.11:13124075:G:T
          Gene:
          OPTN (Varview)
          Functional Consequence:
          stop_gained,missense_variant,coding_sequence_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.001697/387 (ALFA)
          T=0./0 (KOREAN)
          A=0.006871/44 (1000Genomes)
          A=0.007192/1009 (GnomAD)
          A=0.007567/2003 (TOPMED)
          A=0.011069/871 (PAGE_STUDY)
          A=0.018293/6 (HapMap)
          HGVS:
          NC_000010.11:g.13124076G>A, NC_000010.11:g.13124076G>C, NC_000010.11:g.13124076G>T, NC_000010.10:g.13166076A>G, NC_000010.10:g.13166076A>C, NC_000010.10:g.13166076A>T, NG_012876.1:g.28995G>A, NG_012876.1:g.28995G>C, NG_012876.1:g.28995G>T, NM_021980.4:c.964G>A, NM_021980.4:c.964G>C, NM_021980.4:c.964G>T, NM_001008212.2:c.964G>A, NM_001008212.2:c.964G>C, NM_001008212.2:c.964G>T, NM_001008212.1:c.964G>A, NM_001008212.1:c.964G>C, NM_001008212.1:c.964G>T, NM_001008211.1:c.964G>A, NM_001008211.1:c.964G>C, NM_001008211.1:c.964G>T, NM_001008213.1:c.964G>A, NM_001008213.1:c.964G>C, NM_001008213.1:c.964G>T, NP_068815.2:p.Glu322Lys, NP_068815.2:p.Glu322Gln, NP_068815.2:p.Glu322Ter, NP_001008213.1:p.Glu322Lys, NP_001008213.1:p.Glu322Gln, NP_001008213.1:p.Glu322Ter, NP_001008212.1:p.Glu322Lys, NP_001008212.1:p.Glu322Gln, NP_001008212.1:p.Glu322Ter, NP_001008214.1:p.Glu322Lys, NP_001008214.1:p.Glu322Gln, NP_001008214.1:p.Glu322Ter

          5.

          rs17856434 has merged into rs523747 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            10:13124076 (GRCh38)
            10:13166076 (GRCh37)
            Canonical SPDI:
            NC_000010.11:13124075:G:A,NC_000010.11:13124075:G:C,NC_000010.11:13124075:G:T
            Gene:
            OPTN (Varview)
            Functional Consequence:
            stop_gained,missense_variant,coding_sequence_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.001697/387 (ALFA)
            T=0./0 (KOREAN)
            A=0.006871/44 (1000Genomes)
            A=0.007192/1009 (GnomAD)
            A=0.007567/2003 (TOPMED)
            A=0.011069/871 (PAGE_STUDY)
            A=0.018293/6 (HapMap)
            HGVS:
            NC_000010.11:g.13124076G>A, NC_000010.11:g.13124076G>C, NC_000010.11:g.13124076G>T, NC_000010.10:g.13166076A>G, NC_000010.10:g.13166076A>C, NC_000010.10:g.13166076A>T, NG_012876.1:g.28995G>A, NG_012876.1:g.28995G>C, NG_012876.1:g.28995G>T, NM_021980.4:c.964G>A, NM_021980.4:c.964G>C, NM_021980.4:c.964G>T, NM_001008212.2:c.964G>A, NM_001008212.2:c.964G>C, NM_001008212.2:c.964G>T, NM_001008212.1:c.964G>A, NM_001008212.1:c.964G>C, NM_001008212.1:c.964G>T, NM_001008211.1:c.964G>A, NM_001008211.1:c.964G>C, NM_001008211.1:c.964G>T, NM_001008213.1:c.964G>A, NM_001008213.1:c.964G>C, NM_001008213.1:c.964G>T, NP_068815.2:p.Glu322Lys, NP_068815.2:p.Glu322Gln, NP_068815.2:p.Glu322Ter, NP_001008213.1:p.Glu322Lys, NP_001008213.1:p.Glu322Gln, NP_001008213.1:p.Glu322Ter, NP_001008212.1:p.Glu322Lys, NP_001008212.1:p.Glu322Gln, NP_001008212.1:p.Glu322Ter, NP_001008214.1:p.Glu322Lys, NP_001008214.1:p.Glu322Gln, NP_001008214.1:p.Glu322Ter

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