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Items: 1 to 20 of 396

1.

rs781731495 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    12:114683170 (GRCh38)
    12:115120975 (GRCh37)
    Canonical SPDI:
    NC_000012.12:114683169:G:T
    Gene:
    TBX3 (Varview), LOC105370000 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    T=0.000009/1 (ExAC)
    HGVS:
    2.

    rs781639524 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      12:114683067 (GRCh38)
      12:115120872 (GRCh37)
      Canonical SPDI:
      NC_000012.12:114683066:G:A,NC_000012.12:114683066:G:T
      Gene:
      TBX3 (Varview), LOC105370000 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      A=0.000012/3 (GnomAD_exomes)
      A=0.000026/3 (ExAC)
      HGVS:
      3.

      rs781632308 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        12:114671963 (GRCh38)
        12:115109768 (GRCh37)
        Canonical SPDI:
        NC_000012.12:114671962:T:C,NC_000012.12:114671962:T:G
        Gene:
        TBX3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0./0 (GnomAD)
        HGVS:
        4.

        rs781481035 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GGGCTCCTGCGCTCC>- [Show Flanks]
          Chromosome:
          12:114674565 (GRCh38)
          12:115112370 (GRCh37)
          Canonical SPDI:
          NC_000012.12:114674562:CCGGGCTCCTGCGCTCC:CC
          Gene:
          TBX3 (Varview)
          Functional Consequence:
          coding_sequence_variant,inframe_deletion
          Validated:
          by frequency,by cluster
          MAF:
          -=0./0 (ExAC)
          HGVS:
          5.

          rs781359855 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:114671853 (GRCh38)
            12:115109658 (GRCh37)
            Canonical SPDI:
            NC_000012.12:114671852:G:A
            Gene:
            TBX3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000012/2 (GnomAD_exomes)
            A=0.000014/2 (GnomAD)
            A=0.000023/6 (TOPMED)
            A=0.000055/1 (ExAC)
            HGVS:
            6.

            rs781306340 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              12:114680886 (GRCh38)
              12:115118691 (GRCh37)
              Canonical SPDI:
              NC_000012.12:114680885:T:C
              Gene:
              TBX3 (Varview), LOC105370000 (Varview)
              Functional Consequence:
              coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/1 (ExAC)
              HGVS:
              7.

              rs781304111 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                12:114674586 (GRCh38)
                12:115112391 (GRCh37)
                Canonical SPDI:
                NC_000012.12:114674585:C:A,NC_000012.12:114674585:C:T
                Gene:
                TBX3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                T=0.00003/1 (ExAC)
                HGVS:
                8.

                rs781212726 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:114682920 (GRCh38)
                  12:115120725 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:114682919:T:C
                  Gene:
                  TBX3 (Varview), LOC105370000 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0./0 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  C=0.000136/34 (GnomAD_exomes)
                  C=0.000167/20 (ExAC)
                  HGVS:
                  9.

                  rs781193551 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    12:114672170 (GRCh38)
                    12:115109975 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:114672169:G:A,NC_000012.12:114672169:G:C
                    Gene:
                    TBX3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000084/1 (ALFA)
                    C=0.000006/1 (GnomAD_exomes)
                    C=0.000023/6 (TOPMED)
                    C=0.000047/1 (ExAC)
                    A=0.00006/1 (TOMMO)
                    HGVS:
                    11.

                    rs780879062 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:114674311 (GRCh38)
                      12:115112116 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:114674310:G:A
                      Gene:
                      TBX3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (ExAC)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      12.

                      rs780531262 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        12:114674425 (GRCh38)
                        12:115112230 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:114674424:C:A,NC_000012.12:114674424:C:T
                        Gene:
                        TBX3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0./0 (ExAC)
                        T=0.000007/1 (GnomAD_exomes)
                        T=0.000021/3 (GnomAD)
                        A=0.00006/1 (TOMMO)
                        HGVS:
                        13.

                        rs780398425 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:114679956 (GRCh38)
                          12:115117761 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:114679955:C:T
                          Gene:
                          TBX3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/1 (ExAC)
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          14.

                          rs780391500 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:114672062 (GRCh38)
                            12:115109867 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:114672061:C:T
                            Gene:
                            TBX3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.00004/1 (ExAC)
                            HGVS:
                            15.

                            rs780229109 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:114672133 (GRCh38)
                              12:115109938 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:114672132:A:G
                              Gene:
                              TBX3 (Varview)
                              Functional Consequence:
                              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)
                              G=0.000039/7 (GnomAD_exomes)
                              G=0.00009/2 (ExAC)
                              HGVS:
                              16.

                              rs780049501 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                12:114674793 (GRCh38)
                                12:115112598 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:114674792:C:A
                                Gene:
                                TBX3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.00002/1 (ExAC)
                                HGVS:
                                17.

                                rs779733514 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:114677593 (GRCh38)
                                  12:115115398 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:114677592:G:A
                                  Gene:
                                  TBX3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,stop_gained
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000008/1 (ExAC)
                                  HGVS:
                                  18.

                                  rs779500081 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:114679549 (GRCh38)
                                    12:115117354 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:114679548:G:A
                                    Gene:
                                    TBX3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000111/1 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000008/1 (ExAC)
                                    HGVS:
                                    19.

                                    rs779479067 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      12:114674443 (GRCh38)
                                      12:115112248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:114674442:G:A,NC_000012.12:114674442:G:C
                                      Gene:
                                      TBX3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0./0 (ExAC)
                                      A=0.000014/2 (GnomAD)
                                      A=0.00003/8 (TOPMED)
                                      A=0.000036/5 (GnomAD_exomes)
                                      C=0.00006/1 (TOMMO)
                                      HGVS:
                                      20.

                                      rs779062347 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:114672048 (GRCh38)
                                        12:115109853 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:114672047:G:A
                                        Gene:
                                        TBX3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000085/3 (ALFA)
                                        A=0.000033/6 (GnomAD_exomes)
                                        A=0.000045/12 (TOPMED)
                                        A=0.000057/8 (GnomAD)
                                        A=0.000066/2 (ExAC)
                                        HGVS:

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