U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 586

1.

rs1490480820 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:9757645 (GRCh38)
    19:9868321 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9757644:A:G
    Gene:
    ZNF846 (Varview)
    Functional Consequence:
    missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1487666799 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:9763354 (GRCh38)
      19:9874030 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9763353:A:G
      Gene:
      ZNF846 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1487566298 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:9758080 (GRCh38)
        19:9868756 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9758079:T:C
        Gene:
        ZNF846 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000019.10:g.9758080T>C, NC_000019.9:g.9868756T>C, NM_001353800.3:c.994A>G, NM_001353800.2:c.994A>G, NM_001353800.1:c.994A>G, NM_001077624.3:c.997A>G, NM_001077624.2:c.997A>G, NM_001077624.1:c.997A>G, NM_001353799.2:c.994A>G, NM_001353799.1:c.994A>G, NM_001353798.2:c.610A>G, NM_001353798.1:c.610A>G, NR_172872.1:n.1625A>G, NM_001395834.1:c.889A>G, NM_001395835.1:c.886A>G, NM_001395832.1:c.997A>G, NR_172871.1:n.1449A>G, NR_172873.1:n.1446A>G, NM_001395833.1:c.889A>G, NM_001395837.1:c.826A>G, NM_001395830.1:c.997A>G, NM_001395831.1:c.997A>G, NR_172870.1:n.1222A>G, NR_172869.1:n.1219A>G, NM_001395843.1:c.610A>G, NM_001395842.1:c.610A>G, NM_001395836.1:c.826A>G, NM_001395838.1:c.700A>G, NM_001395841.1:c.610A>G, NM_001395839.1:c.610A>G, NM_001395840.1:c.610A>G, NR_148544.1:n.1449A>G, NP_001340729.1:p.Thr332Ala, NP_001071092.1:p.Thr333Ala, NP_001340728.1:p.Thr332Ala, NP_001340727.1:p.Thr204Ala, NP_001382763.1:p.Thr297Ala, NP_001382764.1:p.Thr296Ala, NP_001382761.1:p.Thr333Ala, NP_001382762.1:p.Thr297Ala, NP_001382766.1:p.Thr276Ala, NP_001382759.1:p.Thr333Ala, NP_001382760.1:p.Thr333Ala, NP_001382772.1:p.Thr204Ala, NP_001382771.1:p.Thr204Ala, NP_001382765.1:p.Thr276Ala, NP_001382767.1:p.Thr234Ala, NP_001382770.1:p.Thr204Ala, NP_001382768.1:p.Thr204Ala, NP_001382769.1:p.Thr204Ala

        4.

        rs1485073404 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:9758757 (GRCh38)
          19:9869433 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9758756:C:T
          Gene:
          ZNF846 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.9758757C>T, NC_000019.9:g.9869433C>T, NM_001353800.3:c.317G>A, NM_001353800.2:c.317G>A, NM_001353800.1:c.317G>A, NM_001077624.3:c.320G>A, NM_001077624.2:c.320G>A, NM_001077624.1:c.320G>A, NM_001353799.2:c.317G>A, NM_001353799.1:c.317G>A, NM_001353798.2:c.-68G>A, NM_001353798.1:c.-68G>A, NR_172872.1:n.948G>A, NM_001395834.1:c.212G>A, NM_001395835.1:c.209G>A, NM_001395832.1:c.320G>A, NR_172871.1:n.772G>A, NR_172873.1:n.769G>A, NM_001395833.1:c.212G>A, NM_001395837.1:c.149G>A, NM_001395830.1:c.320G>A, NM_001395831.1:c.320G>A, NR_172870.1:n.545G>A, NR_172869.1:n.542G>A, NM_001395843.1:c.-68G>A, NM_001395842.1:c.-68G>A, NM_001395836.1:c.149G>A, NM_001395838.1:c.23G>A, NM_001395841.1:c.-68G>A, NM_001395839.1:c.-68G>A, NM_001395840.1:c.-68G>A, NR_148544.1:n.772G>A, NP_001340729.1:p.Ser106Asn, NP_001071092.1:p.Ser107Asn, NP_001340728.1:p.Ser106Asn, NP_001382763.1:p.Ser71Asn, NP_001382764.1:p.Ser70Asn, NP_001382761.1:p.Ser107Asn, NP_001382762.1:p.Ser71Asn, NP_001382766.1:p.Ser50Asn, NP_001382759.1:p.Ser107Asn, NP_001382760.1:p.Ser107Asn, NP_001382765.1:p.Ser50Asn, NP_001382767.1:p.Ser8Asn

          5.

          rs1484146304 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:9762095 (GRCh38)
            19:9872771 (GRCh37)
            Canonical SPDI:
            NC_000019.10:9762094:T:C
            Gene:
            ZNF846 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1482556555 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:9762103 (GRCh38)
              19:9872779 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9762102:C:T
              Gene:
              ZNF846 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.9762103C>T, NC_000019.9:g.9872779C>T, NM_001353800.3:c.205G>A, NM_001353800.2:c.205G>A, NM_001353800.1:c.205G>A, NM_001077624.3:c.208G>A, NM_001077624.2:c.208G>A, NM_001077624.1:c.208G>A, NM_001353799.2:c.205G>A, NM_001353799.1:c.205G>A, NM_001353798.2:c.-97G>A, NM_001353798.1:c.-97G>A, NR_172872.1:n.919G>A, NM_001395834.1:c.100G>A, NM_001395835.1:c.97G>A, NM_001395832.1:c.208G>A, NR_172871.1:n.743G>A, NR_172873.1:n.740G>A, NM_001395833.1:c.100G>A, NM_001395837.1:c.37G>A, NM_001395830.1:c.208G>A, NM_001395831.1:c.208G>A, NR_172870.1:n.516G>A, NR_172869.1:n.513G>A, NM_001395836.1:c.37G>A, NM_001395841.1:c.-97G>A, NR_148544.1:n.743G>A, NP_001340729.1:p.Gly69Arg, NP_001071092.1:p.Gly70Arg, NP_001340728.1:p.Gly69Arg, NP_001382763.1:p.Gly34Arg, NP_001382764.1:p.Gly33Arg, NP_001382761.1:p.Gly70Arg, NP_001382762.1:p.Gly34Arg, NP_001382766.1:p.Gly13Arg, NP_001382759.1:p.Gly70Arg, NP_001382760.1:p.Gly70Arg, NP_001382765.1:p.Gly13Arg

              7.

              rs1478467907 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:9757631 (GRCh38)
                19:9868307 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9757630:T:C
                Gene:
                ZNF846 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1477643665 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  19:9757827 (GRCh38)
                  19:9868503 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:9757826:G:C
                  Gene:
                  ZNF846 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1476158568 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:9758087 (GRCh38)
                    19:9868763 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9758086:T:C
                    Gene:
                    ZNF846 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    C=0.000212/4 (TOMMO)
                    HGVS:

                    10.

                    rs1476084404 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:9758416 (GRCh38)
                      19:9869092 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9758415:T:C
                      Gene:
                      ZNF846 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000106/2 (TOMMO)
                      HGVS:
                      NC_000019.10:g.9758416T>C, NC_000019.9:g.9869092T>C, NM_001353800.3:c.658A>G, NM_001353800.2:c.658A>G, NM_001353800.1:c.658A>G, NM_001077624.3:c.661A>G, NM_001077624.2:c.661A>G, NM_001077624.1:c.661A>G, NM_001353799.2:c.658A>G, NM_001353799.1:c.658A>G, NM_001353798.2:c.274A>G, NM_001353798.1:c.274A>G, NR_172872.1:n.1289A>G, NM_001395834.1:c.553A>G, NM_001395835.1:c.550A>G, NM_001395832.1:c.661A>G, NR_172871.1:n.1113A>G, NR_172873.1:n.1110A>G, NM_001395833.1:c.553A>G, NM_001395837.1:c.490A>G, NM_001395830.1:c.661A>G, NM_001395831.1:c.661A>G, NR_172870.1:n.886A>G, NR_172869.1:n.883A>G, NM_001395843.1:c.274A>G, NM_001395842.1:c.274A>G, NM_001395836.1:c.490A>G, NM_001395838.1:c.364A>G, NM_001395841.1:c.274A>G, NM_001395839.1:c.274A>G, NM_001395840.1:c.274A>G, NR_148544.1:n.1113A>G, NP_001340729.1:p.Asn220Asp, NP_001071092.1:p.Asn221Asp, NP_001340728.1:p.Asn220Asp, NP_001340727.1:p.Asn92Asp, NP_001382763.1:p.Asn185Asp, NP_001382764.1:p.Asn184Asp, NP_001382761.1:p.Asn221Asp, NP_001382762.1:p.Asn185Asp, NP_001382766.1:p.Asn164Asp, NP_001382759.1:p.Asn221Asp, NP_001382760.1:p.Asn221Asp, NP_001382772.1:p.Asn92Asp, NP_001382771.1:p.Asn92Asp, NP_001382765.1:p.Asn164Asp, NP_001382767.1:p.Asn122Asp, NP_001382770.1:p.Asn92Asp, NP_001382768.1:p.Asn92Asp, NP_001382769.1:p.Asn92Asp

                      11.

                      rs1472714328 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:9758067 (GRCh38)
                        19:9868743 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9758066:G:A
                        Gene:
                        ZNF846 (Varview)
                        Functional Consequence:
                        non_coding_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)
                        HGVS:
                        NC_000019.10:g.9758067G>A, NC_000019.9:g.9868743G>A, NM_001353800.3:c.1007C>T, NM_001353800.2:c.1007C>T, NM_001353800.1:c.1007C>T, NM_001077624.3:c.1010C>T, NM_001077624.2:c.1010C>T, NM_001077624.1:c.1010C>T, NM_001353799.2:c.1007C>T, NM_001353799.1:c.1007C>T, NM_001353798.2:c.623C>T, NM_001353798.1:c.623C>T, NR_172872.1:n.1638C>T, NM_001395834.1:c.902C>T, NM_001395835.1:c.899C>T, NM_001395832.1:c.1010C>T, NR_172871.1:n.1462C>T, NR_172873.1:n.1459C>T, NM_001395833.1:c.902C>T, NM_001395837.1:c.839C>T, NM_001395830.1:c.1010C>T, NM_001395831.1:c.1010C>T, NR_172870.1:n.1235C>T, NR_172869.1:n.1232C>T, NM_001395843.1:c.623C>T, NM_001395842.1:c.623C>T, NM_001395836.1:c.839C>T, NM_001395838.1:c.713C>T, NM_001395841.1:c.623C>T, NM_001395839.1:c.623C>T, NM_001395840.1:c.623C>T, NR_148544.1:n.1462C>T, NP_001340729.1:p.Pro336Leu, NP_001071092.1:p.Pro337Leu, NP_001340728.1:p.Pro336Leu, NP_001340727.1:p.Pro208Leu, NP_001382763.1:p.Pro301Leu, NP_001382764.1:p.Pro300Leu, NP_001382761.1:p.Pro337Leu, NP_001382762.1:p.Pro301Leu, NP_001382766.1:p.Pro280Leu, NP_001382759.1:p.Pro337Leu, NP_001382760.1:p.Pro337Leu, NP_001382772.1:p.Pro208Leu, NP_001382771.1:p.Pro208Leu, NP_001382765.1:p.Pro280Leu, NP_001382767.1:p.Pro238Leu, NP_001382770.1:p.Pro208Leu, NP_001382768.1:p.Pro208Leu, NP_001382769.1:p.Pro208Leu

                        12.

                        rs1472120068 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          19:9758314 (GRCh38)
                          19:9868990 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9758313:C:A
                          Gene:
                          ZNF846 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.9758314C>A, NC_000019.9:g.9868990C>A, NM_001353800.3:c.760G>T, NM_001353800.2:c.760G>T, NM_001353800.1:c.760G>T, NM_001077624.3:c.763G>T, NM_001077624.2:c.763G>T, NM_001077624.1:c.763G>T, NM_001353799.2:c.760G>T, NM_001353799.1:c.760G>T, NM_001353798.2:c.376G>T, NM_001353798.1:c.376G>T, NR_172872.1:n.1391G>T, NM_001395834.1:c.655G>T, NM_001395835.1:c.652G>T, NM_001395832.1:c.763G>T, NR_172871.1:n.1215G>T, NR_172873.1:n.1212G>T, NM_001395833.1:c.655G>T, NM_001395837.1:c.592G>T, NM_001395830.1:c.763G>T, NM_001395831.1:c.763G>T, NR_172870.1:n.988G>T, NR_172869.1:n.985G>T, NM_001395843.1:c.376G>T, NM_001395842.1:c.376G>T, NM_001395836.1:c.592G>T, NM_001395838.1:c.466G>T, NM_001395841.1:c.376G>T, NM_001395839.1:c.376G>T, NM_001395840.1:c.376G>T, NR_148544.1:n.1215G>T, NP_001340729.1:p.Val254Phe, NP_001071092.1:p.Val255Phe, NP_001340728.1:p.Val254Phe, NP_001340727.1:p.Val126Phe, NP_001382763.1:p.Val219Phe, NP_001382764.1:p.Val218Phe, NP_001382761.1:p.Val255Phe, NP_001382762.1:p.Val219Phe, NP_001382766.1:p.Val198Phe, NP_001382759.1:p.Val255Phe, NP_001382760.1:p.Val255Phe, NP_001382772.1:p.Val126Phe, NP_001382771.1:p.Val126Phe, NP_001382765.1:p.Val198Phe, NP_001382767.1:p.Val156Phe, NP_001382770.1:p.Val126Phe, NP_001382768.1:p.Val126Phe, NP_001382769.1:p.Val126Phe

                          13.

                          rs1471923898 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:9759920 (GRCh38)
                            19:9870596 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:9759919:G:A
                            Gene:
                            ZNF846 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000012/3 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1471267618 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:9758252 (GRCh38)
                              19:9868928 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9758251:A:G
                              Gene:
                              ZNF846 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1467054736 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:9758667 (GRCh38)
                                19:9869343 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9758666:A:G
                                Gene:
                                ZNF846 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000019.10:g.9758667A>G, NC_000019.9:g.9869343A>G, NM_001353800.3:c.407T>C, NM_001353800.2:c.407T>C, NM_001353800.1:c.407T>C, NM_001077624.3:c.410T>C, NM_001077624.2:c.410T>C, NM_001077624.1:c.410T>C, NM_001353799.2:c.407T>C, NM_001353799.1:c.407T>C, NM_001353798.2:c.23T>C, NM_001353798.1:c.23T>C, NR_172872.1:n.1038T>C, NM_001395834.1:c.302T>C, NM_001395835.1:c.299T>C, NM_001395832.1:c.410T>C, NR_172871.1:n.862T>C, NR_172873.1:n.859T>C, NM_001395833.1:c.302T>C, NM_001395837.1:c.239T>C, NM_001395830.1:c.410T>C, NM_001395831.1:c.410T>C, NR_172870.1:n.635T>C, NR_172869.1:n.632T>C, NM_001395843.1:c.23T>C, NM_001395842.1:c.23T>C, NM_001395836.1:c.239T>C, NM_001395838.1:c.113T>C, NM_001395841.1:c.23T>C, NM_001395839.1:c.23T>C, NM_001395840.1:c.23T>C, NR_148544.1:n.862T>C, NP_001340729.1:p.Ile136Thr, NP_001071092.1:p.Ile137Thr, NP_001340728.1:p.Ile136Thr, NP_001340727.1:p.Ile8Thr, NP_001382763.1:p.Ile101Thr, NP_001382764.1:p.Ile100Thr, NP_001382761.1:p.Ile137Thr, NP_001382762.1:p.Ile101Thr, NP_001382766.1:p.Ile80Thr, NP_001382759.1:p.Ile137Thr, NP_001382760.1:p.Ile137Thr, NP_001382772.1:p.Ile8Thr, NP_001382771.1:p.Ile8Thr, NP_001382765.1:p.Ile80Thr, NP_001382767.1:p.Ile38Thr, NP_001382770.1:p.Ile8Thr, NP_001382768.1:p.Ile8Thr, NP_001382769.1:p.Ile8Thr

                                16.

                                rs1464442870 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  19:9758223 (GRCh38)
                                  19:9868899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9758221:TTT:T
                                  Gene:
                                  ZNF846 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.9758223_9758224del, NC_000019.9:g.9868899_9868900del, NM_001353800.3:c.851_852del, NM_001353800.2:c.851_852del, NM_001353800.1:c.851_852del, NM_001077624.3:c.854_855del, NM_001077624.2:c.854_855del, NM_001077624.1:c.854_855del, NM_001353799.2:c.851_852del, NM_001353799.1:c.851_852del, NM_001353798.2:c.467_468del, NM_001353798.1:c.467_468del, NR_172872.1:n.1482_1483del, NM_001395834.1:c.746_747del, NM_001395835.1:c.743_744del, NM_001395832.1:c.854_855del, NR_172871.1:n.1306_1307del, NR_172873.1:n.1303_1304del, NM_001395833.1:c.746_747del, NM_001395837.1:c.683_684del, NM_001395830.1:c.854_855del, NM_001395831.1:c.854_855del, NR_172870.1:n.1079_1080del, NR_172869.1:n.1076_1077del, NM_001395843.1:c.467_468del, NM_001395842.1:c.467_468del, NM_001395836.1:c.683_684del, NM_001395838.1:c.557_558del, NM_001395841.1:c.467_468del, NM_001395839.1:c.467_468del, NM_001395840.1:c.467_468del, NR_148544.1:n.1306_1307del, NP_001340729.1:p.Lys284fs, NP_001071092.1:p.Lys285fs, NP_001340728.1:p.Lys284fs, NP_001340727.1:p.Lys156fs, NP_001382763.1:p.Lys249fs, NP_001382764.1:p.Lys248fs, NP_001382761.1:p.Lys285fs, NP_001382762.1:p.Lys249fs, NP_001382766.1:p.Lys228fs, NP_001382759.1:p.Lys285fs, NP_001382760.1:p.Lys285fs, NP_001382772.1:p.Lys156fs, NP_001382771.1:p.Lys156fs, NP_001382765.1:p.Lys228fs, NP_001382767.1:p.Lys186fs, NP_001382770.1:p.Lys156fs, NP_001382768.1:p.Lys156fs, NP_001382769.1:p.Lys156fs

                                  17.

                                  rs1463439462 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    19:9757700 (GRCh38)
                                    19:9868376 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9757699:AAA:AA
                                    Gene:
                                    ZNF846 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0.000094/1 (ALFA)
                                    -=0.000004/1 (GnomAD_exomes)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1461336908 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      19:9758562 (GRCh38)
                                      19:9869238 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9758561:C:G
                                      Gene:
                                      ZNF846 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000019.10:g.9758562C>G, NC_000019.9:g.9869238C>G, NM_001353800.3:c.512G>C, NM_001353800.2:c.512G>C, NM_001353800.1:c.512G>C, NM_001077624.3:c.515G>C, NM_001077624.2:c.515G>C, NM_001077624.1:c.515G>C, NM_001353799.2:c.512G>C, NM_001353799.1:c.512G>C, NM_001353798.2:c.128G>C, NM_001353798.1:c.128G>C, NR_172872.1:n.1143G>C, NM_001395834.1:c.407G>C, NM_001395835.1:c.404G>C, NM_001395832.1:c.515G>C, NR_172871.1:n.967G>C, NR_172873.1:n.964G>C, NM_001395833.1:c.407G>C, NM_001395837.1:c.344G>C, NM_001395830.1:c.515G>C, NM_001395831.1:c.515G>C, NR_172870.1:n.740G>C, NR_172869.1:n.737G>C, NM_001395843.1:c.128G>C, NM_001395842.1:c.128G>C, NM_001395836.1:c.344G>C, NM_001395838.1:c.218G>C, NM_001395841.1:c.128G>C, NM_001395839.1:c.128G>C, NM_001395840.1:c.128G>C, NR_148544.1:n.967G>C, NP_001340729.1:p.Cys171Ser, NP_001071092.1:p.Cys172Ser, NP_001340728.1:p.Cys171Ser, NP_001340727.1:p.Cys43Ser, NP_001382763.1:p.Cys136Ser, NP_001382764.1:p.Cys135Ser, NP_001382761.1:p.Cys172Ser, NP_001382762.1:p.Cys136Ser, NP_001382766.1:p.Cys115Ser, NP_001382759.1:p.Cys172Ser, NP_001382760.1:p.Cys172Ser, NP_001382772.1:p.Cys43Ser, NP_001382771.1:p.Cys43Ser, NP_001382765.1:p.Cys115Ser, NP_001382767.1:p.Cys73Ser, NP_001382770.1:p.Cys43Ser, NP_001382768.1:p.Cys43Ser, NP_001382769.1:p.Cys43Ser

                                      19.

                                      rs1456560402 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        19:9758530 (GRCh38)
                                        19:9869206 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9758529:G:T
                                        Gene:
                                        ZNF846 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000019.10:g.9758530G>T, NC_000019.9:g.9869206G>T, NM_001353800.3:c.544C>A, NM_001353800.2:c.544C>A, NM_001353800.1:c.544C>A, NM_001077624.3:c.547C>A, NM_001077624.2:c.547C>A, NM_001077624.1:c.547C>A, NM_001353799.2:c.544C>A, NM_001353799.1:c.544C>A, NM_001353798.2:c.160C>A, NM_001353798.1:c.160C>A, NR_172872.1:n.1175C>A, NM_001395834.1:c.439C>A, NM_001395835.1:c.436C>A, NM_001395832.1:c.547C>A, NR_172871.1:n.999C>A, NR_172873.1:n.996C>A, NM_001395833.1:c.439C>A, NM_001395837.1:c.376C>A, NM_001395830.1:c.547C>A, NM_001395831.1:c.547C>A, NR_172870.1:n.772C>A, NR_172869.1:n.769C>A, NM_001395843.1:c.160C>A, NM_001395842.1:c.160C>A, NM_001395836.1:c.376C>A, NM_001395838.1:c.250C>A, NM_001395841.1:c.160C>A, NM_001395839.1:c.160C>A, NM_001395840.1:c.160C>A, NR_148544.1:n.999C>A, NP_001340729.1:p.Pro182Thr, NP_001071092.1:p.Pro183Thr, NP_001340728.1:p.Pro182Thr, NP_001340727.1:p.Pro54Thr, NP_001382763.1:p.Pro147Thr, NP_001382764.1:p.Pro146Thr, NP_001382761.1:p.Pro183Thr, NP_001382762.1:p.Pro147Thr, NP_001382766.1:p.Pro126Thr, NP_001382759.1:p.Pro183Thr, NP_001382760.1:p.Pro183Thr, NP_001382772.1:p.Pro54Thr, NP_001382771.1:p.Pro54Thr, NP_001382765.1:p.Pro126Thr, NP_001382767.1:p.Pro84Thr, NP_001382770.1:p.Pro54Thr, NP_001382768.1:p.Pro54Thr, NP_001382769.1:p.Pro54Thr

                                        20.

                                        rs1456522316 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:9758261 (GRCh38)
                                          19:9868937 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:9758260:G:A
                                          Gene:
                                          ZNF846 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...