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Items: 1 to 20 of 337

1.

rs1490401164 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    2:101413041 (GRCh38)
    2:102029503 (GRCh37)
    Canonical SPDI:
    NC_000002.12:101413040:G:A,NC_000002.12:101413040:G:T
    Gene:
    RFX8 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000002.12:g.101413041G>A, NC_000002.12:g.101413041G>T, NC_000002.11:g.102029503G>A, NC_000002.11:g.102029503G>T, XM_011511777.3:c.304C>T, XM_011511777.3:c.304C>A, XM_011511777.2:c.304C>T, XM_011511777.2:c.304C>A, XM_011511777.1:c.304C>T, XM_011511777.1:c.304C>A, XM_011511771.3:c.820C>T, XM_011511771.3:c.820C>A, XM_011511771.2:c.820C>T, XM_011511771.2:c.820C>A, XM_011511771.1:c.820C>T, XM_011511771.1:c.820C>A, NM_001145664.2:c.592C>T, NM_001145664.2:c.592C>A, NM_001145664.1:c.592C>T, NM_001145664.1:c.592C>A, XM_017004851.2:c.931C>T, XM_017004851.2:c.931C>A, XM_017004851.1:c.931C>T, XM_017004851.1:c.931C>A, XM_017004852.2:c.718C>T, XM_017004852.2:c.718C>A, XM_017004852.1:c.718C>T, XM_017004852.1:c.718C>A, XM_011511773.2:c.502C>T, XM_011511773.2:c.502C>A, XM_011511773.1:c.502C>T, XM_011511773.1:c.502C>A, XM_011511778.2:c.304C>T, XM_011511778.2:c.304C>A, XM_011511778.1:c.304C>T, XM_011511778.1:c.304C>A, NM_001367509.1:c.79C>T, NM_001367509.1:c.79C>A, NM_001367508.1:c.79C>T, NM_001367508.1:c.79C>A, NM_001367510.1:c.79C>T, NM_001367510.1:c.79C>A, XM_047445739.1:c.805C>T, XM_047445739.1:c.805C>A, XM_047445740.1:c.805C>T, XM_047445740.1:c.805C>A, XM_047445741.1:c.304C>T, XM_047445741.1:c.304C>A, XM_017004854.1:c.931C>T, XM_017004854.1:c.931C>A, XM_047445742.1:c.*5C>T, XM_047445742.1:c.*5C>A, XP_011510079.1:p.Arg102Cys, XP_011510079.1:p.Arg102Ser, XP_011510073.1:p.Arg274Cys, XP_011510073.1:p.Arg274Ser, NP_001139136.2:p.Arg198Cys, NP_001139136.2:p.Arg198Ser, XP_016860340.1:p.Arg311Cys, XP_016860340.1:p.Arg311Ser, XP_016860341.1:p.Arg240Cys, XP_016860341.1:p.Arg240Ser, XP_011510075.1:p.Arg168Cys, XP_011510075.1:p.Arg168Ser, XP_011510080.1:p.Arg102Cys, XP_011510080.1:p.Arg102Ser, NP_001354438.1:p.Arg27Cys, NP_001354438.1:p.Arg27Ser, NP_001354437.1:p.Arg27Cys, NP_001354437.1:p.Arg27Ser, NP_001354439.1:p.Arg27Cys, NP_001354439.1:p.Arg27Ser, XP_047301695.1:p.Arg269Cys, XP_047301695.1:p.Arg269Ser, XP_047301696.1:p.Arg269Cys, XP_047301696.1:p.Arg269Ser, XP_047301697.1:p.Arg102Cys, XP_047301697.1:p.Arg102Ser, XP_016860343.1:p.Arg311Cys, XP_016860343.1:p.Arg311Ser

    2.

    rs1488599759 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:101406025 (GRCh38)
      2:102022487 (GRCh37)
      Canonical SPDI:
      NC_000002.12:101406024:C:T
      Gene:
      RFX8 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1488138383 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:101402633 (GRCh38)
        2:102019095 (GRCh37)
        Canonical SPDI:
        NC_000002.12:101402632:C:A
        Gene:
        RFX8 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.000012/2 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.101402633C>A, NC_000002.11:g.102019095C>A, XM_011511777.3:c.760G>T, XM_011511777.2:c.760G>T, XM_011511777.1:c.760G>T, XM_011511771.3:c.1276G>T, XM_011511771.2:c.1276G>T, XM_011511771.1:c.1276G>T, NM_001145664.2:c.1048G>T, NM_001145664.1:c.1048G>T, XM_017004851.2:c.1387G>T, XM_017004851.1:c.1387G>T, XM_017004852.2:c.1174G>T, XM_017004852.1:c.1174G>T, XM_011511773.2:c.958G>T, XM_011511773.1:c.958G>T, XM_011511778.2:c.760G>T, XM_011511778.1:c.760G>T, NM_001367509.1:c.535G>T, NM_001367508.1:c.535G>T, NM_001367510.1:c.535G>T, XM_047445739.1:c.1261G>T, XM_047445741.1:c.760G>T, NM_207403.1:c.148G>T, XP_011510079.1:p.Asp254Tyr, XP_011510073.1:p.Asp426Tyr, NP_001139136.2:p.Asp350Tyr, XP_016860340.1:p.Asp463Tyr, XP_016860341.1:p.Asp392Tyr, XP_011510075.1:p.Asp320Tyr, XP_011510080.1:p.Asp254Tyr, NP_001354438.1:p.Asp179Tyr, NP_001354437.1:p.Asp179Tyr, NP_001354439.1:p.Asp179Tyr, XP_047301695.1:p.Asp421Tyr, XP_047301697.1:p.Asp254Tyr

        4.

        rs1487157298 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          2:101397683 (GRCh38)
          2:102014145 (GRCh37)
          Canonical SPDI:
          NC_000002.12:101397682:T:C,NC_000002.12:101397682:T:G
          Gene:
          RFX8 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          G=0.000007/1 (GnomAD_exomes)
          C=0.000008/2 (TOPMED)
          C=0.000156/1 (1000Genomes)
          HGVS:
          NC_000002.12:g.101397683T>C, NC_000002.12:g.101397683T>G, NC_000002.11:g.102014145T>C, NC_000002.11:g.102014145T>G, XM_011511777.3:c.999A>G, XM_011511777.3:c.999A>C, XM_011511777.2:c.999A>G, XM_011511777.2:c.999A>C, XM_011511777.1:c.999A>G, XM_011511777.1:c.999A>C, XM_011511771.3:c.1515A>G, XM_011511771.3:c.1515A>C, XM_011511771.2:c.1515A>G, XM_011511771.2:c.1515A>C, XM_011511771.1:c.1515A>G, XM_011511771.1:c.1515A>C, NM_001145664.2:c.1287A>G, NM_001145664.2:c.1287A>C, NM_001145664.1:c.1287A>G, NM_001145664.1:c.1287A>C, XM_017004851.2:c.1626A>G, XM_017004851.2:c.1626A>C, XM_017004851.1:c.1626A>G, XM_017004851.1:c.1626A>C, XM_017004852.2:c.1413A>G, XM_017004852.2:c.1413A>C, XM_017004852.1:c.1413A>G, XM_017004852.1:c.1413A>C, XM_011511773.2:c.1197A>G, XM_011511773.2:c.1197A>C, XM_011511773.1:c.1197A>G, XM_011511773.1:c.1197A>C, XM_011511778.2:c.999A>G, XM_011511778.2:c.999A>C, XM_011511778.1:c.999A>G, XM_011511778.1:c.999A>C, NM_001367509.1:c.774A>G, NM_001367509.1:c.774A>C, NM_001367508.1:c.774A>G, NM_001367508.1:c.774A>C, NM_001367510.1:c.774A>G, NM_001367510.1:c.774A>C, XM_047445739.1:c.1500A>G, XM_047445739.1:c.1500A>C, XM_047445740.1:c.*16A>G, XM_047445740.1:c.*16A>C, XM_047445741.1:c.999A>G, XM_047445741.1:c.999A>C, NM_207403.1:c.387A>G, NM_207403.1:c.387A>C

          5.

          rs1486626273 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            2:101397560 (GRCh38)
            2:102014022 (GRCh37)
            Canonical SPDI:
            NC_000002.12:101397559:A:C,NC_000002.12:101397559:A:G
            Gene:
            RFX8 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            NC_000002.12:g.101397560A>C, NC_000002.12:g.101397560A>G, NC_000002.11:g.102014022A>C, NC_000002.11:g.102014022A>G, XM_011511777.3:c.1122T>G, XM_011511777.3:c.1122T>C, XM_011511777.2:c.1122T>G, XM_011511777.2:c.1122T>C, XM_011511777.1:c.1122T>G, XM_011511777.1:c.1122T>C, XM_011511771.3:c.1638T>G, XM_011511771.3:c.1638T>C, XM_011511771.2:c.1638T>G, XM_011511771.2:c.1638T>C, XM_011511771.1:c.1638T>G, XM_011511771.1:c.1638T>C, NM_001145664.2:c.1410T>G, NM_001145664.2:c.1410T>C, NM_001145664.1:c.1410T>G, NM_001145664.1:c.1410T>C, XM_017004851.2:c.1749T>G, XM_017004851.2:c.1749T>C, XM_017004851.1:c.1749T>G, XM_017004851.1:c.1749T>C, XM_017004852.2:c.1536T>G, XM_017004852.2:c.1536T>C, XM_017004852.1:c.1536T>G, XM_017004852.1:c.1536T>C, XM_011511773.2:c.1320T>G, XM_011511773.2:c.1320T>C, XM_011511773.1:c.1320T>G, XM_011511773.1:c.1320T>C, XM_011511778.2:c.1122T>G, XM_011511778.2:c.1122T>C, XM_011511778.1:c.1122T>G, XM_011511778.1:c.1122T>C, NM_001367509.1:c.897T>G, NM_001367509.1:c.897T>C, NM_001367508.1:c.897T>G, NM_001367508.1:c.897T>C, NM_001367510.1:c.897T>G, NM_001367510.1:c.897T>C, XM_047445739.1:c.1623T>G, XM_047445739.1:c.1623T>C, XM_047445740.1:c.*139T>G, XM_047445740.1:c.*139T>C, XM_047445741.1:c.1122T>G, XM_047445741.1:c.1122T>C, NM_207403.1:c.510T>G, NM_207403.1:c.510T>C, XP_011510079.1:p.Asn374Lys, XP_011510073.1:p.Asn546Lys, NP_001139136.2:p.Asn470Lys, XP_016860340.1:p.Asn583Lys, XP_016860341.1:p.Asn512Lys, XP_011510075.1:p.Asn440Lys, XP_011510080.1:p.Asn374Lys, NP_001354438.1:p.Asn299Lys, NP_001354437.1:p.Asn299Lys, NP_001354439.1:p.Asn299Lys, XP_047301695.1:p.Asn541Lys, XP_047301697.1:p.Asn374Lys

            6.

            rs1484694276 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              2:101406028 (GRCh38)
              2:102022490 (GRCh37)
              Canonical SPDI:
              NC_000002.12:101406027:TTT:TT
              Gene:
              RFX8 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              TT=0./0 (ALFA)
              HGVS:
              NC_000002.12:g.101406030del, NC_000002.11:g.102022492del, XM_011511777.3:c.555del, XM_011511777.2:c.555del, XM_011511777.1:c.555del, XM_011511771.3:c.1071del, XM_011511771.2:c.1071del, XM_011511771.1:c.1071del, NM_001145664.2:c.843del, NM_001145664.1:c.843del, XM_017004851.2:c.1182del, XM_017004851.1:c.1182del, XM_017004852.2:c.969del, XM_017004852.1:c.969del, XM_011511773.2:c.753del, XM_011511773.1:c.753del, XM_011511778.2:c.555del, XM_011511778.1:c.555del, NM_001367509.1:c.330del, NM_001367508.1:c.330del, NM_001367510.1:c.330del, XM_047445739.1:c.1056del, XM_047445740.1:c.1056del, XM_047445741.1:c.555del, XM_017004854.1:c.1182del, XP_011510079.1:p.Lys185fs, XP_011510073.1:p.Lys357fs, NP_001139136.2:p.Lys281fs, XP_016860340.1:p.Lys394fs, XP_016860341.1:p.Lys323fs, XP_011510075.1:p.Lys251fs, XP_011510080.1:p.Lys185fs, NP_001354438.1:p.Lys110fs, NP_001354437.1:p.Lys110fs, NP_001354439.1:p.Lys110fs, XP_047301695.1:p.Lys352fs, XP_047301696.1:p.Lys352fs, XP_047301697.1:p.Lys185fs, XP_016860343.1:p.Lys394fs

              7.

              rs1484073782 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                2:101418888 (GRCh38)
                2:102035350 (GRCh37)
                Canonical SPDI:
                NC_000002.12:101418887:C:A,NC_000002.12:101418887:C:T
                Gene:
                RFX8 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                T=0.000006/1 (GnomAD_exomes)
                A=0.000026/7 (TOPMED)
                HGVS:
                NC_000002.12:g.101418888C>A, NC_000002.12:g.101418888C>T, NC_000002.11:g.102035350C>A, NC_000002.11:g.102035350C>T, XM_011511777.3:c.26G>T, XM_011511777.3:c.26G>A, XM_011511777.2:c.26G>T, XM_011511777.2:c.26G>A, XM_011511777.1:c.26G>T, XM_011511777.1:c.26G>A, XM_011511771.3:c.542G>T, XM_011511771.3:c.542G>A, XM_011511771.2:c.542G>T, XM_011511771.2:c.542G>A, XM_011511771.1:c.542G>T, XM_011511771.1:c.542G>A, NM_001145664.2:c.314G>T, NM_001145664.2:c.314G>A, NM_001145664.1:c.314G>T, NM_001145664.1:c.314G>A, XM_017004851.2:c.653G>T, XM_017004851.2:c.653G>A, XM_017004851.1:c.653G>T, XM_017004851.1:c.653G>A, XM_017004852.2:c.440G>T, XM_017004852.2:c.440G>A, XM_017004852.1:c.440G>T, XM_017004852.1:c.440G>A, XM_011511773.2:c.224G>T, XM_011511773.2:c.224G>A, XM_011511773.1:c.224G>T, XM_011511773.1:c.224G>A, XM_011511778.2:c.26G>T, XM_011511778.2:c.26G>A, XM_011511778.1:c.26G>T, XM_011511778.1:c.26G>A, NM_001367509.1:c.-141G>T, NM_001367509.1:c.-141G>A, NM_001367508.1:c.-141G>T, NM_001367508.1:c.-141G>A, NM_001367510.1:c.-141G>T, NM_001367510.1:c.-141G>A, XM_047445739.1:c.527G>T, XM_047445739.1:c.527G>A, XM_047445740.1:c.527G>T, XM_047445740.1:c.527G>A, XM_047445741.1:c.26G>T, XM_047445741.1:c.26G>A, XM_017004854.1:c.653G>T, XM_017004854.1:c.653G>A, XM_047445742.1:c.653G>T, XM_047445742.1:c.653G>A, XM_047445743.1:c.*89G>T, XM_047445743.1:c.*89G>A, NM_207403.1:c.-1699G>T, NM_207403.1:c.-1699G>A, XP_011510079.1:p.Cys9Phe, XP_011510079.1:p.Cys9Tyr, XP_011510073.1:p.Cys181Phe, XP_011510073.1:p.Cys181Tyr, NP_001139136.2:p.Cys105Phe, NP_001139136.2:p.Cys105Tyr, XP_016860340.1:p.Cys218Phe, XP_016860340.1:p.Cys218Tyr, XP_016860341.1:p.Cys147Phe, XP_016860341.1:p.Cys147Tyr, XP_011510075.1:p.Cys75Phe, XP_011510075.1:p.Cys75Tyr, XP_011510080.1:p.Cys9Phe, XP_011510080.1:p.Cys9Tyr, XP_047301695.1:p.Cys176Phe, XP_047301695.1:p.Cys176Tyr, XP_047301696.1:p.Cys176Phe, XP_047301696.1:p.Cys176Tyr, XP_047301697.1:p.Cys9Phe, XP_047301697.1:p.Cys9Tyr, XP_016860343.1:p.Cys218Phe, XP_016860343.1:p.Cys218Tyr, XP_047301698.1:p.Cys218Phe, XP_047301698.1:p.Cys218Tyr

                8.

                rs1483872711 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:101402713 (GRCh38)
                  2:102019175 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:101402712:A:G
                  Gene:
                  RFX8 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000006/1 (GnomAD_exomes)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000002.12:g.101402713A>G, NC_000002.11:g.102019175A>G, XM_011511777.3:c.680T>C, XM_011511777.2:c.680T>C, XM_011511777.1:c.680T>C, XM_011511771.3:c.1196T>C, XM_011511771.2:c.1196T>C, XM_011511771.1:c.1196T>C, NM_001145664.2:c.968T>C, NM_001145664.1:c.968T>C, XM_017004851.2:c.1307T>C, XM_017004851.1:c.1307T>C, XM_017004852.2:c.1094T>C, XM_017004852.1:c.1094T>C, XM_011511773.2:c.878T>C, XM_011511773.1:c.878T>C, XM_011511778.2:c.680T>C, XM_011511778.1:c.680T>C, NM_001367509.1:c.455T>C, NM_001367508.1:c.455T>C, NM_001367510.1:c.455T>C, XM_047445739.1:c.1181T>C, XM_047445741.1:c.680T>C, NM_207403.1:c.68T>C, XP_011510079.1:p.Met227Thr, XP_011510073.1:p.Met399Thr, NP_001139136.2:p.Met323Thr, XP_016860340.1:p.Met436Thr, XP_016860341.1:p.Met365Thr, XP_011510075.1:p.Met293Thr, XP_011510080.1:p.Met227Thr, NP_001354438.1:p.Met152Thr, NP_001354437.1:p.Met152Thr, NP_001354439.1:p.Met152Thr, XP_047301695.1:p.Met394Thr, XP_047301697.1:p.Met227Thr

                  9.

                  rs1481129669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:101397603 (GRCh38)
                    2:102014065 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:101397602:T:A
                    Gene:
                    RFX8 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000002.12:g.101397603T>A, NC_000002.11:g.102014065T>A, XM_011511777.3:c.1079A>T, XM_011511777.2:c.1079A>T, XM_011511777.1:c.1079A>T, XM_011511771.3:c.1595A>T, XM_011511771.2:c.1595A>T, XM_011511771.1:c.1595A>T, NM_001145664.2:c.1367A>T, NM_001145664.1:c.1367A>T, XM_017004851.2:c.1706A>T, XM_017004851.1:c.1706A>T, XM_017004852.2:c.1493A>T, XM_017004852.1:c.1493A>T, XM_011511773.2:c.1277A>T, XM_011511773.1:c.1277A>T, XM_011511778.2:c.1079A>T, XM_011511778.1:c.1079A>T, NM_001367509.1:c.854A>T, NM_001367508.1:c.854A>T, NM_001367510.1:c.854A>T, XM_047445739.1:c.1580A>T, XM_047445740.1:c.*96A>T, XM_047445741.1:c.1079A>T, NM_207403.1:c.467A>T, XP_011510079.1:p.Asp360Val, XP_011510073.1:p.Asp532Val, NP_001139136.2:p.Asp456Val, XP_016860340.1:p.Asp569Val, XP_016860341.1:p.Asp498Val, XP_011510075.1:p.Asp426Val, XP_011510080.1:p.Asp360Val, NP_001354438.1:p.Asp285Val, NP_001354437.1:p.Asp285Val, NP_001354439.1:p.Asp285Val, XP_047301695.1:p.Asp527Val, XP_047301697.1:p.Asp360Val

                    10.

                    rs1479237655 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      2:101412956 (GRCh38)
                      2:102029418 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:101412955:C:A,NC_000002.12:101412955:C:T
                      Gene:
                      RFX8 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      NC_000002.12:g.101412956C>A, NC_000002.12:g.101412956C>T, NC_000002.11:g.102029418C>A, NC_000002.11:g.102029418C>T, XM_011511777.3:c.389G>T, XM_011511777.3:c.389G>A, XM_011511777.2:c.389G>T, XM_011511777.2:c.389G>A, XM_011511777.1:c.389G>T, XM_011511777.1:c.389G>A, XM_011511771.3:c.905G>T, XM_011511771.3:c.905G>A, XM_011511771.2:c.905G>T, XM_011511771.2:c.905G>A, XM_011511771.1:c.905G>T, XM_011511771.1:c.905G>A, NM_001145664.2:c.677G>T, NM_001145664.2:c.677G>A, NM_001145664.1:c.677G>T, NM_001145664.1:c.677G>A, XM_017004851.2:c.1016G>T, XM_017004851.2:c.1016G>A, XM_017004851.1:c.1016G>T, XM_017004851.1:c.1016G>A, XM_017004852.2:c.803G>T, XM_017004852.2:c.803G>A, XM_017004852.1:c.803G>T, XM_017004852.1:c.803G>A, XM_011511773.2:c.587G>T, XM_011511773.2:c.587G>A, XM_011511773.1:c.587G>T, XM_011511773.1:c.587G>A, XM_011511778.2:c.389G>T, XM_011511778.2:c.389G>A, XM_011511778.1:c.389G>T, XM_011511778.1:c.389G>A, NM_001367509.1:c.164G>T, NM_001367509.1:c.164G>A, NM_001367508.1:c.164G>T, NM_001367508.1:c.164G>A, NM_001367510.1:c.164G>T, NM_001367510.1:c.164G>A, XM_047445739.1:c.890G>T, XM_047445739.1:c.890G>A, XM_047445740.1:c.890G>T, XM_047445740.1:c.890G>A, XM_047445741.1:c.389G>T, XM_047445741.1:c.389G>A, XM_017004854.1:c.1016G>T, XM_017004854.1:c.1016G>A, XM_047445742.1:c.*90G>T, XM_047445742.1:c.*90G>A, XP_011510079.1:p.Arg130Leu, XP_011510079.1:p.Arg130Gln, XP_011510073.1:p.Arg302Leu, XP_011510073.1:p.Arg302Gln, NP_001139136.2:p.Arg226Leu, NP_001139136.2:p.Arg226Gln, XP_016860340.1:p.Arg339Leu, XP_016860340.1:p.Arg339Gln, XP_016860341.1:p.Arg268Leu, XP_016860341.1:p.Arg268Gln, XP_011510075.1:p.Arg196Leu, XP_011510075.1:p.Arg196Gln, XP_011510080.1:p.Arg130Leu, XP_011510080.1:p.Arg130Gln, NP_001354438.1:p.Arg55Leu, NP_001354438.1:p.Arg55Gln, NP_001354437.1:p.Arg55Leu, NP_001354437.1:p.Arg55Gln, NP_001354439.1:p.Arg55Leu, NP_001354439.1:p.Arg55Gln, XP_047301695.1:p.Arg297Leu, XP_047301695.1:p.Arg297Gln, XP_047301696.1:p.Arg297Leu, XP_047301696.1:p.Arg297Gln, XP_047301697.1:p.Arg130Leu, XP_047301697.1:p.Arg130Gln, XP_016860343.1:p.Arg339Leu, XP_016860343.1:p.Arg339Gln

                      11.

                      rs1477781547 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:101402559 (GRCh38)
                        2:102019021 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:101402558:G:A
                        Gene:
                        RFX8 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000006/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1477342489 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          2:101413037 (GRCh38)
                          2:102029499 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:101413036:A:T
                          Gene:
                          RFX8 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.101413037A>T, NC_000002.11:g.102029499A>T, XM_011511777.3:c.308T>A, XM_011511777.2:c.308T>A, XM_011511777.1:c.308T>A, XM_011511771.3:c.824T>A, XM_011511771.2:c.824T>A, XM_011511771.1:c.824T>A, NM_001145664.2:c.596T>A, NM_001145664.1:c.596T>A, XM_017004851.2:c.935T>A, XM_017004851.1:c.935T>A, XM_017004852.2:c.722T>A, XM_017004852.1:c.722T>A, XM_011511773.2:c.506T>A, XM_011511773.1:c.506T>A, XM_011511778.2:c.308T>A, XM_011511778.1:c.308T>A, NM_001367509.1:c.83T>A, NM_001367508.1:c.83T>A, NM_001367510.1:c.83T>A, XM_047445739.1:c.809T>A, XM_047445740.1:c.809T>A, XM_047445741.1:c.308T>A, XM_017004854.1:c.935T>A, XM_047445742.1:c.*9T>A, XP_011510079.1:p.Val103Asp, XP_011510073.1:p.Val275Asp, NP_001139136.2:p.Val199Asp, XP_016860340.1:p.Val312Asp, XP_016860341.1:p.Val241Asp, XP_011510075.1:p.Val169Asp, XP_011510080.1:p.Val103Asp, NP_001354438.1:p.Val28Asp, NP_001354437.1:p.Val28Asp, NP_001354439.1:p.Val28Asp, XP_047301695.1:p.Val270Asp, XP_047301696.1:p.Val270Asp, XP_047301697.1:p.Val103Asp, XP_016860343.1:p.Val312Asp

                          13.

                          rs1477271972 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:101402497 (GRCh38)
                            2:102018959 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:101402496:C:T
                            Gene:
                            RFX8 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000006/1 (GnomAD_exomes)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000002.12:g.101402497C>T, NC_000002.11:g.102018959C>T, XM_011511777.3:c.896G>A, XM_011511777.2:c.896G>A, XM_011511777.1:c.896G>A, XM_011511771.3:c.1412G>A, XM_011511771.2:c.1412G>A, XM_011511771.1:c.1412G>A, NM_001145664.2:c.1184G>A, NM_001145664.1:c.1184G>A, XM_017004851.2:c.1523G>A, XM_017004851.1:c.1523G>A, XM_017004852.2:c.1310G>A, XM_017004852.1:c.1310G>A, XM_011511773.2:c.1094G>A, XM_011511773.1:c.1094G>A, XM_011511778.2:c.896G>A, XM_011511778.1:c.896G>A, NM_001367509.1:c.671G>A, NM_001367508.1:c.671G>A, NM_001367510.1:c.671G>A, XM_047445739.1:c.1397G>A, XM_047445741.1:c.896G>A, NM_207403.1:c.284G>A, XP_011510079.1:p.Gly299Asp, XP_011510073.1:p.Gly471Asp, NP_001139136.2:p.Gly395Asp, XP_016860340.1:p.Gly508Asp, XP_016860341.1:p.Gly437Asp, XP_011510075.1:p.Gly365Asp, XP_011510080.1:p.Gly299Asp, NP_001354438.1:p.Gly224Asp, NP_001354437.1:p.Gly224Asp, NP_001354439.1:p.Gly224Asp, XP_047301695.1:p.Gly466Asp, XP_047301697.1:p.Gly299Asp

                            14.

                            rs1476808855 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              2:101397591 (GRCh38)
                              2:102014053 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:101397590:C:A,NC_000002.12:101397590:C:T
                              Gene:
                              RFX8 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              T=0.000006/1 (GnomAD_exomes)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000002.12:g.101397591C>A, NC_000002.12:g.101397591C>T, NC_000002.11:g.102014053C>A, NC_000002.11:g.102014053C>T, XM_011511777.3:c.1091G>T, XM_011511777.3:c.1091G>A, XM_011511777.2:c.1091G>T, XM_011511777.2:c.1091G>A, XM_011511777.1:c.1091G>T, XM_011511777.1:c.1091G>A, XM_011511771.3:c.1607G>T, XM_011511771.3:c.1607G>A, XM_011511771.2:c.1607G>T, XM_011511771.2:c.1607G>A, XM_011511771.1:c.1607G>T, XM_011511771.1:c.1607G>A, NM_001145664.2:c.1379G>T, NM_001145664.2:c.1379G>A, NM_001145664.1:c.1379G>T, NM_001145664.1:c.1379G>A, XM_017004851.2:c.1718G>T, XM_017004851.2:c.1718G>A, XM_017004851.1:c.1718G>T, XM_017004851.1:c.1718G>A, XM_017004852.2:c.1505G>T, XM_017004852.2:c.1505G>A, XM_017004852.1:c.1505G>T, XM_017004852.1:c.1505G>A, XM_011511773.2:c.1289G>T, XM_011511773.2:c.1289G>A, XM_011511773.1:c.1289G>T, XM_011511773.1:c.1289G>A, XM_011511778.2:c.1091G>T, XM_011511778.2:c.1091G>A, XM_011511778.1:c.1091G>T, XM_011511778.1:c.1091G>A, NM_001367509.1:c.866G>T, NM_001367509.1:c.866G>A, NM_001367508.1:c.866G>T, NM_001367508.1:c.866G>A, NM_001367510.1:c.866G>T, NM_001367510.1:c.866G>A, XM_047445739.1:c.1592G>T, XM_047445739.1:c.1592G>A, XM_047445740.1:c.*108G>T, XM_047445740.1:c.*108G>A, XM_047445741.1:c.1091G>T, XM_047445741.1:c.1091G>A, NM_207403.1:c.479A>G, NM_207403.1:c.479A>T, XP_011510079.1:p.Ser364Ile, XP_011510079.1:p.Ser364Asn, XP_011510073.1:p.Ser536Ile, XP_011510073.1:p.Ser536Asn, NP_001139136.2:p.Ser460Ile, NP_001139136.2:p.Ser460Asn, XP_016860340.1:p.Ser573Ile, XP_016860340.1:p.Ser573Asn, XP_016860341.1:p.Ser502Ile, XP_016860341.1:p.Ser502Asn, XP_011510075.1:p.Ser430Ile, XP_011510075.1:p.Ser430Asn, XP_011510080.1:p.Ser364Ile, XP_011510080.1:p.Ser364Asn, NP_001354438.1:p.Ser289Ile, NP_001354438.1:p.Ser289Asn, NP_001354437.1:p.Ser289Ile, NP_001354437.1:p.Ser289Asn, NP_001354439.1:p.Ser289Ile, NP_001354439.1:p.Ser289Asn, XP_047301695.1:p.Ser531Ile, XP_047301695.1:p.Ser531Asn, XP_047301697.1:p.Ser364Ile, XP_047301697.1:p.Ser364Asn

                              15.

                              rs1476799560 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:101410623 (GRCh38)
                                2:102027085 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:101410622:A:G
                                Gene:
                                RFX8 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000013/2 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.101410623A>G, NC_000002.11:g.102027085A>G, XM_011511777.3:c.521T>C, XM_011511777.2:c.521T>C, XM_011511777.1:c.521T>C, XM_011511771.3:c.1037T>C, XM_011511771.2:c.1037T>C, XM_011511771.1:c.1037T>C, NM_001145664.2:c.809T>C, NM_001145664.1:c.809T>C, XM_017004851.2:c.1148T>C, XM_017004851.1:c.1148T>C, XM_017004852.2:c.935T>C, XM_017004852.1:c.935T>C, XM_011511773.2:c.719T>C, XM_011511773.1:c.719T>C, XM_011511778.2:c.521T>C, XM_011511778.1:c.521T>C, NM_001367509.1:c.296T>C, NM_001367508.1:c.296T>C, NM_001367510.1:c.296T>C, XM_047445739.1:c.1022T>C, XM_047445740.1:c.1022T>C, XM_047445741.1:c.521T>C, XM_017004854.1:c.1148T>C, XP_011510079.1:p.Phe174Ser, XP_011510073.1:p.Phe346Ser, NP_001139136.2:p.Phe270Ser, XP_016860340.1:p.Phe383Ser, XP_016860341.1:p.Phe312Ser, XP_011510075.1:p.Phe240Ser, XP_011510080.1:p.Phe174Ser, NP_001354438.1:p.Phe99Ser, NP_001354437.1:p.Phe99Ser, NP_001354439.1:p.Phe99Ser, XP_047301695.1:p.Phe341Ser, XP_047301696.1:p.Phe341Ser, XP_047301697.1:p.Phe174Ser, XP_016860343.1:p.Phe383Ser

                                16.

                                rs1475818941 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:101402639 (GRCh38)
                                  2:102019101 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:101402638:G:A
                                  Gene:
                                  RFX8 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.101402639G>A, NC_000002.11:g.102019101G>A, XM_011511777.3:c.754C>T, XM_011511777.2:c.754C>T, XM_011511777.1:c.754C>T, XM_011511771.3:c.1270C>T, XM_011511771.2:c.1270C>T, XM_011511771.1:c.1270C>T, NM_001145664.2:c.1042C>T, NM_001145664.1:c.1042C>T, XM_017004851.2:c.1381C>T, XM_017004851.1:c.1381C>T, XM_017004852.2:c.1168C>T, XM_017004852.1:c.1168C>T, XM_011511773.2:c.952C>T, XM_011511773.1:c.952C>T, XM_011511778.2:c.754C>T, XM_011511778.1:c.754C>T, NM_001367509.1:c.529C>T, NM_001367508.1:c.529C>T, NM_001367510.1:c.529C>T, XM_047445739.1:c.1255C>T, XM_047445741.1:c.754C>T, NM_207403.1:c.142C>T, XP_011510079.1:p.Pro252Ser, XP_011510073.1:p.Pro424Ser, NP_001139136.2:p.Pro348Ser, XP_016860340.1:p.Pro461Ser, XP_016860341.1:p.Pro390Ser, XP_011510075.1:p.Pro318Ser, XP_011510080.1:p.Pro252Ser, NP_001354438.1:p.Pro177Ser, NP_001354437.1:p.Pro177Ser, NP_001354439.1:p.Pro177Ser, XP_047301695.1:p.Pro419Ser, XP_047301697.1:p.Pro252Ser

                                  17.

                                  rs1472656939 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    2:101410709 (GRCh38)
                                    2:102027171 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:101410708:T:G
                                    Gene:
                                    RFX8 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000142/2 (TOMMO)
                                    HGVS:
                                    NC_000002.12:g.101410709T>G, NC_000002.11:g.102027171T>G, XM_011511777.3:c.435A>C, XM_011511777.2:c.435A>C, XM_011511777.1:c.435A>C, XM_011511771.3:c.951A>C, XM_011511771.2:c.951A>C, XM_011511771.1:c.951A>C, NM_001145664.2:c.723A>C, NM_001145664.1:c.723A>C, XM_017004851.2:c.1062A>C, XM_017004851.1:c.1062A>C, XM_017004852.2:c.849A>C, XM_017004852.1:c.849A>C, XM_011511773.2:c.633A>C, XM_011511773.1:c.633A>C, XM_011511778.2:c.435A>C, XM_011511778.1:c.435A>C, NM_001367509.1:c.210A>C, NM_001367508.1:c.210A>C, NM_001367510.1:c.210A>C, XM_047445739.1:c.936A>C, XM_047445740.1:c.936A>C, XM_047445741.1:c.435A>C, XM_017004854.1:c.1062A>C, XP_011510079.1:p.Leu145Phe, XP_011510073.1:p.Leu317Phe, NP_001139136.2:p.Leu241Phe, XP_016860340.1:p.Leu354Phe, XP_016860341.1:p.Leu283Phe, XP_011510075.1:p.Leu211Phe, XP_011510080.1:p.Leu145Phe, NP_001354438.1:p.Leu70Phe, NP_001354437.1:p.Leu70Phe, NP_001354439.1:p.Leu70Phe, XP_047301695.1:p.Leu312Phe, XP_047301696.1:p.Leu312Phe, XP_047301697.1:p.Leu145Phe, XP_016860343.1:p.Leu354Phe

                                    18.

                                    rs1472421522 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:101397687 (GRCh38)
                                      2:102014149 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:101397686:C:T
                                      Gene:
                                      RFX8 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000013/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.101397687C>T, NC_000002.11:g.102014149C>T, XM_011511777.3:c.995G>A, XM_011511777.2:c.995G>A, XM_011511777.1:c.995G>A, XM_011511771.3:c.1511G>A, XM_011511771.2:c.1511G>A, XM_011511771.1:c.1511G>A, NM_001145664.2:c.1283G>A, NM_001145664.1:c.1283G>A, XM_017004851.2:c.1622G>A, XM_017004851.1:c.1622G>A, XM_017004852.2:c.1409G>A, XM_017004852.1:c.1409G>A, XM_011511773.2:c.1193G>A, XM_011511773.1:c.1193G>A, XM_011511778.2:c.995G>A, XM_011511778.1:c.995G>A, NM_001367509.1:c.770G>A, NM_001367508.1:c.770G>A, NM_001367510.1:c.770G>A, XM_047445739.1:c.1496G>A, XM_047445740.1:c.*12G>A, XM_047445741.1:c.995G>A, NM_207403.1:c.383G>A, XP_011510079.1:p.Ser332Asn, XP_011510073.1:p.Ser504Asn, NP_001139136.2:p.Ser428Asn, XP_016860340.1:p.Ser541Asn, XP_016860341.1:p.Ser470Asn, XP_011510075.1:p.Ser398Asn, XP_011510080.1:p.Ser332Asn, NP_001354438.1:p.Ser257Asn, NP_001354437.1:p.Ser257Asn, NP_001354439.1:p.Ser257Asn, XP_047301695.1:p.Ser499Asn, XP_047301697.1:p.Ser332Asn

                                      19.

                                      rs1470003948 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:101402487 (GRCh38)
                                        2:102018949 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:101402486:G:A
                                        Gene:
                                        RFX8 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                        HGVS:

                                        20.

                                        rs1467627618 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:101413053 (GRCh38)
                                          2:102029515 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:101413052:T:C
                                          Gene:
                                          RFX8 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.101413053T>C, NC_000002.11:g.102029515T>C, XM_011511777.3:c.292A>G, XM_011511777.2:c.292A>G, XM_011511777.1:c.292A>G, XM_011511771.3:c.808A>G, XM_011511771.2:c.808A>G, XM_011511771.1:c.808A>G, NM_001145664.2:c.580A>G, NM_001145664.1:c.580A>G, XM_017004851.2:c.919A>G, XM_017004851.1:c.919A>G, XM_017004852.2:c.706A>G, XM_017004852.1:c.706A>G, XM_011511773.2:c.490A>G, XM_011511773.1:c.490A>G, XM_011511778.2:c.292A>G, XM_011511778.1:c.292A>G, NM_001367509.1:c.67A>G, NM_001367508.1:c.67A>G, NM_001367510.1:c.67A>G, XM_047445739.1:c.793A>G, XM_047445740.1:c.793A>G, XM_047445741.1:c.292A>G, XM_017004854.1:c.919A>G, XM_047445742.1:c.860A>G, XP_011510079.1:p.Lys98Glu, XP_011510073.1:p.Lys270Glu, NP_001139136.2:p.Lys194Glu, XP_016860340.1:p.Lys307Glu, XP_016860341.1:p.Lys236Glu, XP_011510075.1:p.Lys164Glu, XP_011510080.1:p.Lys98Glu, NP_001354438.1:p.Lys23Glu, NP_001354437.1:p.Lys23Glu, NP_001354439.1:p.Lys23Glu, XP_047301695.1:p.Lys265Glu, XP_047301696.1:p.Lys265Glu, XP_047301697.1:p.Lys98Glu, XP_016860343.1:p.Lys307Glu, XP_047301698.1:p.Glu287Gly

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