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Items: 1 to 20 of 719

1.

rs1489681993 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    12:107753996 (GRCh38)
    12:108147773 (GRCh37)
    Canonical SPDI:
    NC_000012.12:107753995:CA:
    Gene:
    PRDM4 (Varview), PRDM4-AS1 (Varview)
    Functional Consequence:
    frameshift_variant,intron_variant,coding_sequence_variant
    HGVS:
    2.

    rs1487719179 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:107734412 (GRCh38)
      12:108128189 (GRCh37)
      Canonical SPDI:
      NC_000012.12:107734411:C:T
      Gene:
      PRDM4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1486778652 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:107734451 (GRCh38)
        12:108128228 (GRCh37)
        Canonical SPDI:
        NC_000012.12:107734450:T:C
        Gene:
        PRDM4 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000019/5 (TOPMED)
        T=0.5/1 (SGDP_PRJ)
        HGVS:
        4.

        rs1486521879 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:107751430 (GRCh38)
          12:108145207 (GRCh37)
          Canonical SPDI:
          NC_000012.12:107751429:T:C
          Gene:
          PRDM4 (Varview), PRDM4-AS1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000111/1 (ALFA)
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1486093162 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:107741202 (GRCh38)
            12:108134979 (GRCh37)
            Canonical SPDI:
            NC_000012.12:107741201:G:A
            Gene:
            PRDM4 (Varview), PRDM4-AS1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000028/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1483283852 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:107752047 (GRCh38)
              12:108145824 (GRCh37)
              Canonical SPDI:
              NC_000012.12:107752046:A:G
              Gene:
              PRDM4 (Varview), PRDM4-AS1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1480098521 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                12:107739426 (GRCh38)
                12:108133203 (GRCh37)
                Canonical SPDI:
                NC_000012.12:107739425:T:A
                Gene:
                PRDM4 (Varview), PRDM4-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1479985722 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  12:107739526 (GRCh38)
                  12:108133303 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:107739525:C:G
                  Gene:
                  PRDM4 (Varview), PRDM4-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1479021698 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:107734267 (GRCh38)
                    12:108128044 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:107734266:G:A
                    Gene:
                    PRDM4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1477998085 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:107734309 (GRCh38)
                      12:108128086 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:107734308:G:A
                      Gene:
                      PRDM4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1476073621 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C,G [Show Flanks]
                        Chromosome:
                        12:107751820 (GRCh38)
                        12:108145597 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:107751819:T:A,NC_000012.12:107751819:T:C,NC_000012.12:107751819:T:G
                        Gene:
                        PRDM4 (Varview), PRDM4-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1475741666 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          12:107741128 (GRCh38)
                          12:108134905 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:107741127:C:A,NC_000012.12:107741127:C:T
                          Gene:
                          PRDM4 (Varview), PRDM4-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1474278108 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:107752105 (GRCh38)
                            12:108145882 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:107752104:C:T
                            Gene:
                            PRDM4 (Varview), PRDM4-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1473124537 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:107751577 (GRCh38)
                              12:108145354 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:107751576:G:A
                              Gene:
                              PRDM4 (Varview), PRDM4-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1472862641 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:107760509 (GRCh38)
                                12:108154286 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:107760508:G:A
                                Gene:
                                PRDM4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1469377544 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:107751928 (GRCh38)
                                  12:108145705 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:107751927:A:G
                                  Gene:
                                  PRDM4 (Varview), PRDM4-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1466759945 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:107741051 (GRCh38)
                                    12:108134828 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:107741050:C:T
                                    Gene:
                                    PRDM4 (Varview), PRDM4-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1466610423 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:107751994 (GRCh38)
                                      12:108145771 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:107751993:C:A
                                      Gene:
                                      PRDM4 (Varview), PRDM4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1466026124 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:107756882 (GRCh38)
                                        12:108150659 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:107756881:C:T
                                        Gene:
                                        PRDM4 (Varview), PRDM4-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1465361436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          12:107753988 (GRCh38)
                                          12:108147765 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:107753987:G:C
                                          Gene:
                                          PRDM4 (Varview), PRDM4-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000012/3 (GnomAD_exomes)
                                          HGVS:

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