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 523

1.

rs1490064234 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:18352109 (GRCh38)
    3:18393601 (GRCh37)
    Canonical SPDI:
    NC_000003.12:18352108:C:G
    Gene:
    SATB1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.18352109C>G, NC_000003.11:g.18393601C>G, NG_027814.2:g.98480G>C, NM_002971.6:c.1662G>C, NM_002971.5:c.1662G>C, NM_002971.4:c.1662G>C, NM_001131010.4:c.1662G>C, NM_001131010.3:c.1662G>C, NM_001131010.2:c.1662G>C, NM_001195470.3:c.1662G>C, NM_001195470.2:c.1662G>C, NM_001195470.1:c.1662G>C, NM_001322871.2:c.1662G>C, NM_001322871.1:c.1662G>C, NM_001322873.2:c.1662G>C, NM_001322873.1:c.1662G>C, NM_001322872.2:c.1662G>C, NM_001322872.1:c.1662G>C, NM_001322874.2:c.1662G>C, NM_001322874.1:c.1662G>C, NM_001322875.2:c.1662G>C, NM_001322875.1:c.1662G>C, NM_001322876.2:c.1446G>C, NM_001322876.1:c.1446G>C, XM_011533988.4:c.1662G>C, XM_011533988.3:c.1662G>C, XM_011533988.2:c.1662G>C, XM_011533988.1:c.1662G>C, XM_011533989.3:c.1662G>C, XM_011533989.2:c.1662G>C, XM_011533989.1:c.1662G>C, NP_002962.1:p.Arg554Ser, NP_001124482.1:p.Arg554Ser, NP_001182399.1:p.Arg554Ser, NP_001309800.1:p.Arg554Ser, NP_001309802.1:p.Arg554Ser, NP_001309801.1:p.Arg554Ser, NP_001309803.1:p.Arg554Ser, NP_001309804.1:p.Arg554Ser, NP_001309805.1:p.Arg482Ser, XP_011532290.1:p.Arg554Ser, XP_011532291.1:p.Arg554Ser

    2.

    rs1488953042 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:18394828 (GRCh38)
      3:18436320 (GRCh37)
      Canonical SPDI:
      NC_000003.12:18394827:C:G
      Gene:
      SATB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000003.12:g.18394828C>G, NC_000003.11:g.18436320C>G, NG_027814.2:g.55761G>C, NM_002971.6:c.840G>C, NM_002971.5:c.840G>C, NM_002971.4:c.840G>C, NM_001131010.4:c.840G>C, NM_001131010.3:c.840G>C, NM_001131010.2:c.840G>C, NM_001195470.3:c.840G>C, NM_001195470.2:c.840G>C, NM_001195470.1:c.840G>C, NM_001322871.2:c.840G>C, NM_001322871.1:c.840G>C, NM_001322873.2:c.840G>C, NM_001322873.1:c.840G>C, NM_001322872.2:c.840G>C, NM_001322872.1:c.840G>C, NM_001322874.2:c.840G>C, NM_001322874.1:c.840G>C, NM_001322875.2:c.840G>C, NM_001322875.1:c.840G>C, NM_001322876.2:c.624G>C, NM_001322876.1:c.624G>C, XM_011533990.4:c.840G>C, XM_011533990.3:c.840G>C, XM_011533990.2:c.840G>C, XM_011533990.1:c.840G>C, XM_011533988.4:c.840G>C, XM_011533988.3:c.840G>C, XM_011533988.2:c.840G>C, XM_011533988.1:c.840G>C, XM_011533989.3:c.840G>C, XM_011533989.2:c.840G>C, XM_011533989.1:c.840G>C, XM_047448683.1:c.840G>C, NP_002962.1:p.Glu280Asp, NP_001124482.1:p.Glu280Asp, NP_001182399.1:p.Glu280Asp, NP_001309800.1:p.Glu280Asp, NP_001309802.1:p.Glu280Asp, NP_001309801.1:p.Glu280Asp, NP_001309803.1:p.Glu280Asp, NP_001309804.1:p.Glu280Asp, NP_001309805.1:p.Glu208Asp, XP_011532292.1:p.Glu280Asp, XP_011532290.1:p.Glu280Asp, XP_011532291.1:p.Glu280Asp, XP_047304639.1:p.Glu280Asp

      3.

      rs1486103633 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:18417076 (GRCh38)
        3:18458568 (GRCh37)
        Canonical SPDI:
        NC_000003.12:18417075:T:C
        Gene:
        SATB1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000023/6 (TOPMED)
        HGVS:
        NC_000003.12:g.18417076T>C, NC_000003.11:g.18458568T>C, NG_027814.2:g.33513A>G, NM_002971.6:c.214A>G, NM_002971.5:c.214A>G, NM_002971.4:c.214A>G, NM_001131010.4:c.214A>G, NM_001131010.3:c.214A>G, NM_001131010.2:c.214A>G, NM_001195470.3:c.214A>G, NM_001195470.2:c.214A>G, NM_001195470.1:c.214A>G, NM_001322871.2:c.214A>G, NM_001322871.1:c.214A>G, NM_001322873.2:c.214A>G, NM_001322873.1:c.214A>G, NM_001322872.2:c.214A>G, NM_001322872.1:c.214A>G, NM_001322874.2:c.214A>G, NM_001322874.1:c.214A>G, NM_001322875.2:c.214A>G, NM_001322875.1:c.214A>G, NM_001322876.2:c.-3A>G, NM_001322876.1:c.-3A>G, XM_011533990.4:c.214A>G, XM_011533990.3:c.214A>G, XM_011533990.2:c.214A>G, XM_011533990.1:c.214A>G, XM_011533988.4:c.214A>G, XM_011533988.3:c.214A>G, XM_011533988.2:c.214A>G, XM_011533988.1:c.214A>G, XM_011533989.3:c.214A>G, XM_011533989.2:c.214A>G, XM_011533989.1:c.214A>G, XM_047448683.1:c.214A>G, NP_002962.1:p.Thr72Ala, NP_001124482.1:p.Thr72Ala, NP_001182399.1:p.Thr72Ala, NP_001309800.1:p.Thr72Ala, NP_001309802.1:p.Thr72Ala, NP_001309801.1:p.Thr72Ala, NP_001309803.1:p.Thr72Ala, NP_001309804.1:p.Thr72Ala, XP_011532292.1:p.Thr72Ala, XP_011532290.1:p.Thr72Ala, XP_011532291.1:p.Thr72Ala, XP_047304639.1:p.Thr72Ala

        4.

        rs1483929696 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          3:18394567 (GRCh38)
          3:18436059 (GRCh37)
          Canonical SPDI:
          NC_000003.12:18394566:G:T
          Gene:
          SATB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000015/4 (TOPMED)
          HGVS:
          NC_000003.12:g.18394567G>T, NC_000003.11:g.18436059G>T, NG_027814.2:g.56022C>A, NM_002971.6:c.1101C>A, NM_002971.5:c.1101C>A, NM_002971.4:c.1101C>A, NM_001131010.4:c.1101C>A, NM_001131010.3:c.1101C>A, NM_001131010.2:c.1101C>A, NM_001195470.3:c.1101C>A, NM_001195470.2:c.1101C>A, NM_001195470.1:c.1101C>A, NM_001322871.2:c.1101C>A, NM_001322871.1:c.1101C>A, NM_001322873.2:c.1101C>A, NM_001322873.1:c.1101C>A, NM_001322872.2:c.1101C>A, NM_001322872.1:c.1101C>A, NM_001322874.2:c.1101C>A, NM_001322874.1:c.1101C>A, NM_001322875.2:c.1101C>A, NM_001322875.1:c.1101C>A, NM_001322876.2:c.885C>A, NM_001322876.1:c.885C>A, XM_011533990.4:c.1101C>A, XM_011533990.3:c.1101C>A, XM_011533990.2:c.1101C>A, XM_011533990.1:c.1101C>A, XM_011533988.4:c.1101C>A, XM_011533988.3:c.1101C>A, XM_011533988.2:c.1101C>A, XM_011533988.1:c.1101C>A, XM_011533989.3:c.1101C>A, XM_011533989.2:c.1101C>A, XM_011533989.1:c.1101C>A, XM_047448683.1:c.1101C>A

          5.

          rs1483814600 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            3:18386447 (GRCh38)
            3:18427939 (GRCh37)
            Canonical SPDI:
            NC_000003.12:18386446:G:C
            Gene:
            SATB1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.18386447G>C, NC_000003.11:g.18427939G>C, NG_027814.2:g.64142C>G, NM_002971.6:c.1371C>G, NM_002971.5:c.1371C>G, NM_002971.4:c.1371C>G, NM_001131010.4:c.1371C>G, NM_001131010.3:c.1371C>G, NM_001131010.2:c.1371C>G, NM_001195470.3:c.1371C>G, NM_001195470.2:c.1371C>G, NM_001195470.1:c.1371C>G, NM_001322871.2:c.1371C>G, NM_001322871.1:c.1371C>G, NM_001322873.2:c.1371C>G, NM_001322873.1:c.1371C>G, NM_001322872.2:c.1371C>G, NM_001322872.1:c.1371C>G, NM_001322874.2:c.1371C>G, NM_001322874.1:c.1371C>G, NM_001322875.2:c.1371C>G, NM_001322875.1:c.1371C>G, NM_001322876.2:c.1155C>G, NM_001322876.1:c.1155C>G, XM_011533990.4:c.1371C>G, XM_011533990.3:c.1371C>G, XM_011533990.2:c.1371C>G, XM_011533990.1:c.1371C>G, XM_011533988.4:c.1371C>G, XM_011533988.3:c.1371C>G, XM_011533988.2:c.1371C>G, XM_011533988.1:c.1371C>G, XM_011533989.3:c.1371C>G, XM_011533989.2:c.1371C>G, XM_011533989.1:c.1371C>G, XM_047448683.1:c.1371C>G

            6.

            rs1483130348 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              3:18417072 (GRCh38)
              3:18458564 (GRCh37)
              Canonical SPDI:
              NC_000003.12:18417071:A:G,NC_000003.12:18417071:A:T
              Gene:
              SATB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,initiator_codon_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000003.12:g.18417072A>G, NC_000003.12:g.18417072A>T, NC_000003.11:g.18458564A>G, NC_000003.11:g.18458564A>T, NG_027814.2:g.33517T>C, NG_027814.2:g.33517T>A, NM_002971.6:c.218T>C, NM_002971.6:c.218T>A, NM_002971.5:c.218T>C, NM_002971.5:c.218T>A, NM_002971.4:c.218T>C, NM_002971.4:c.218T>A, NM_001131010.4:c.218T>C, NM_001131010.4:c.218T>A, NM_001131010.3:c.218T>C, NM_001131010.3:c.218T>A, NM_001131010.2:c.218T>C, NM_001131010.2:c.218T>A, NM_001195470.3:c.218T>C, NM_001195470.3:c.218T>A, NM_001195470.2:c.218T>C, NM_001195470.2:c.218T>A, NM_001195470.1:c.218T>C, NM_001195470.1:c.218T>A, NM_001322871.2:c.218T>C, NM_001322871.2:c.218T>A, NM_001322871.1:c.218T>C, NM_001322871.1:c.218T>A, NM_001322873.2:c.218T>C, NM_001322873.2:c.218T>A, NM_001322873.1:c.218T>C, NM_001322873.1:c.218T>A, NM_001322872.2:c.218T>C, NM_001322872.2:c.218T>A, NM_001322872.1:c.218T>C, NM_001322872.1:c.218T>A, NM_001322874.2:c.218T>C, NM_001322874.2:c.218T>A, NM_001322874.1:c.218T>C, NM_001322874.1:c.218T>A, NM_001322875.2:c.218T>C, NM_001322875.2:c.218T>A, NM_001322875.1:c.218T>C, NM_001322875.1:c.218T>A, NM_001322876.2:c.2T>C, NM_001322876.2:c.2T>A, NM_001322876.1:c.2T>C, NM_001322876.1:c.2T>A, XM_011533990.4:c.218T>C, XM_011533990.4:c.218T>A, XM_011533990.3:c.218T>C, XM_011533990.3:c.218T>A, XM_011533990.2:c.218T>C, XM_011533990.2:c.218T>A, XM_011533990.1:c.218T>C, XM_011533990.1:c.218T>A, XM_011533988.4:c.218T>C, XM_011533988.4:c.218T>A, XM_011533988.3:c.218T>C, XM_011533988.3:c.218T>A, XM_011533988.2:c.218T>C, XM_011533988.2:c.218T>A, XM_011533988.1:c.218T>C, XM_011533988.1:c.218T>A, XM_011533989.3:c.218T>C, XM_011533989.3:c.218T>A, XM_011533989.2:c.218T>C, XM_011533989.2:c.218T>A, XM_011533989.1:c.218T>C, XM_011533989.1:c.218T>A, XM_047448683.1:c.218T>C, XM_047448683.1:c.218T>A, NP_002962.1:p.Met73Thr, NP_002962.1:p.Met73Lys, NP_001124482.1:p.Met73Thr, NP_001124482.1:p.Met73Lys, NP_001182399.1:p.Met73Thr, NP_001182399.1:p.Met73Lys, NP_001309800.1:p.Met73Thr, NP_001309800.1:p.Met73Lys, NP_001309802.1:p.Met73Thr, NP_001309802.1:p.Met73Lys, NP_001309801.1:p.Met73Thr, NP_001309801.1:p.Met73Lys, NP_001309803.1:p.Met73Thr, NP_001309803.1:p.Met73Lys, NP_001309804.1:p.Met73Thr, NP_001309804.1:p.Met73Lys, NP_001309805.1:p.Met1Thr, NP_001309805.1:p.Met1Lys, XP_011532292.1:p.Met73Thr, XP_011532292.1:p.Met73Lys, XP_011532290.1:p.Met73Thr, XP_011532290.1:p.Met73Lys, XP_011532291.1:p.Met73Thr, XP_011532291.1:p.Met73Lys, XP_047304639.1:p.Met73Thr, XP_047304639.1:p.Met73Lys

              7.

              rs1482550358 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:18349352 (GRCh38)
                3:18390844 (GRCh37)
                Canonical SPDI:
                NC_000003.12:18349351:C:T
                Gene:
                SATB1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.18349352C>T, NC_000003.11:g.18390844C>T, NG_027814.2:g.101237G>A, NM_002971.6:c.2110G>A, NM_002971.5:c.2110G>A, NM_002971.4:c.2110G>A, NM_001131010.4:c.2110G>A, NM_001131010.3:c.2110G>A, NM_001131010.2:c.2110G>A, NM_001195470.3:c.2206G>A, NM_001195470.2:c.2206G>A, NM_001195470.1:c.2206G>A, NM_001322871.2:c.2206G>A, NM_001322871.1:c.2206G>A, NM_001322873.2:c.2110G>A, NM_001322873.1:c.2110G>A, NM_001322872.2:c.2110G>A, NM_001322872.1:c.2110G>A, NM_001322874.2:c.2110G>A, NM_001322874.1:c.2110G>A, NM_001322875.2:c.2110G>A, NM_001322875.1:c.2110G>A, NM_001322876.2:c.1894G>A, NM_001322876.1:c.1894G>A, XM_011533988.4:c.2206G>A, XM_011533988.3:c.2206G>A, XM_011533988.2:c.2206G>A, XM_011533988.1:c.2206G>A, XM_011533989.3:c.2206G>A, XM_011533989.2:c.2206G>A, XM_011533989.1:c.2206G>A, NP_002962.1:p.Gly704Ser, NP_001124482.1:p.Gly704Ser, NP_001182399.1:p.Gly736Ser, NP_001309800.1:p.Gly736Ser, NP_001309802.1:p.Gly704Ser, NP_001309801.1:p.Gly704Ser, NP_001309803.1:p.Gly704Ser, NP_001309804.1:p.Gly704Ser, NP_001309805.1:p.Gly632Ser, XP_011532290.1:p.Gly736Ser, XP_011532291.1:p.Gly736Ser

                8.

                rs1481660110 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  3:18349306 (GRCh38)
                  3:18390798 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:18349305:T:A
                  Gene:
                  SATB1 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000028/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (GnomAD_exomes)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000003.12:g.18349306T>A, NC_000003.11:g.18390798T>A, NG_027814.2:g.101283A>T, NM_002971.6:c.2156A>T, NM_002971.5:c.2156A>T, NM_002971.4:c.2156A>T, NM_001131010.4:c.2156A>T, NM_001131010.3:c.2156A>T, NM_001131010.2:c.2156A>T, NM_001195470.3:c.2252A>T, NM_001195470.2:c.2252A>T, NM_001195470.1:c.2252A>T, NM_001322871.2:c.2252A>T, NM_001322871.1:c.2252A>T, NM_001322873.2:c.2156A>T, NM_001322873.1:c.2156A>T, NM_001322872.2:c.2156A>T, NM_001322872.1:c.2156A>T, NM_001322874.2:c.2156A>T, NM_001322874.1:c.2156A>T, NM_001322875.2:c.2156A>T, NM_001322875.1:c.2156A>T, NM_001322876.2:c.1940A>T, NM_001322876.1:c.1940A>T, XM_011533988.4:c.2252A>T, XM_011533988.3:c.2252A>T, XM_011533988.2:c.2252A>T, XM_011533988.1:c.2252A>T, XM_011533989.3:c.2252A>T, XM_011533989.2:c.2252A>T, XM_011533989.1:c.2252A>T, NP_002962.1:p.Tyr719Phe, NP_001124482.1:p.Tyr719Phe, NP_001182399.1:p.Tyr751Phe, NP_001309800.1:p.Tyr751Phe, NP_001309802.1:p.Tyr719Phe, NP_001309801.1:p.Tyr719Phe, NP_001309803.1:p.Tyr719Phe, NP_001309804.1:p.Tyr719Phe, NP_001309805.1:p.Tyr647Phe, XP_011532290.1:p.Tyr751Phe, XP_011532291.1:p.Tyr751Phe

                  9.

                  rs1480623294 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:18386439 (GRCh38)
                    3:18427931 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:18386438:G:A
                    Gene:
                    SATB1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.00002/5 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.18386439G>A, NC_000003.11:g.18427931G>A, NG_027814.2:g.64150C>T, NM_002971.6:c.1379C>T, NM_002971.5:c.1379C>T, NM_002971.4:c.1379C>T, NM_001131010.4:c.1379C>T, NM_001131010.3:c.1379C>T, NM_001131010.2:c.1379C>T, NM_001195470.3:c.1379C>T, NM_001195470.2:c.1379C>T, NM_001195470.1:c.1379C>T, NM_001322871.2:c.1379C>T, NM_001322871.1:c.1379C>T, NM_001322873.2:c.1379C>T, NM_001322873.1:c.1379C>T, NM_001322872.2:c.1379C>T, NM_001322872.1:c.1379C>T, NM_001322874.2:c.1379C>T, NM_001322874.1:c.1379C>T, NM_001322875.2:c.1379C>T, NM_001322875.1:c.1379C>T, NM_001322876.2:c.1163C>T, NM_001322876.1:c.1163C>T, XM_011533990.4:c.1379C>T, XM_011533990.3:c.1379C>T, XM_011533990.2:c.1379C>T, XM_011533990.1:c.1379C>T, XM_011533988.4:c.1379C>T, XM_011533988.3:c.1379C>T, XM_011533988.2:c.1379C>T, XM_011533988.1:c.1379C>T, XM_011533989.3:c.1379C>T, XM_011533989.2:c.1379C>T, XM_011533989.1:c.1379C>T, XM_047448683.1:c.1379C>T, NP_002962.1:p.Pro460Leu, NP_001124482.1:p.Pro460Leu, NP_001182399.1:p.Pro460Leu, NP_001309800.1:p.Pro460Leu, NP_001309802.1:p.Pro460Leu, NP_001309801.1:p.Pro460Leu, NP_001309803.1:p.Pro460Leu, NP_001309804.1:p.Pro460Leu, NP_001309805.1:p.Pro388Leu, XP_011532292.1:p.Pro460Leu, XP_011532290.1:p.Pro460Leu, XP_011532291.1:p.Pro460Leu, XP_047304639.1:p.Pro460Leu

                    10.

                    rs1479694210 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:18352022 (GRCh38)
                      3:18393514 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:18352021:G:A
                      Gene:
                      SATB1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1479266221 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        3:18394826 (GRCh38)
                        3:18436318 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:18394825:T:G
                        Gene:
                        SATB1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.18394826T>G, NC_000003.11:g.18436318T>G, NG_027814.2:g.55763A>C, NM_002971.6:c.842A>C, NM_002971.5:c.842A>C, NM_002971.4:c.842A>C, NM_001131010.4:c.842A>C, NM_001131010.3:c.842A>C, NM_001131010.2:c.842A>C, NM_001195470.3:c.842A>C, NM_001195470.2:c.842A>C, NM_001195470.1:c.842A>C, NM_001322871.2:c.842A>C, NM_001322871.1:c.842A>C, NM_001322873.2:c.842A>C, NM_001322873.1:c.842A>C, NM_001322872.2:c.842A>C, NM_001322872.1:c.842A>C, NM_001322874.2:c.842A>C, NM_001322874.1:c.842A>C, NM_001322875.2:c.842A>C, NM_001322875.1:c.842A>C, NM_001322876.2:c.626A>C, NM_001322876.1:c.626A>C, XM_011533990.4:c.842A>C, XM_011533990.3:c.842A>C, XM_011533990.2:c.842A>C, XM_011533990.1:c.842A>C, XM_011533988.4:c.842A>C, XM_011533988.3:c.842A>C, XM_011533988.2:c.842A>C, XM_011533988.1:c.842A>C, XM_011533989.3:c.842A>C, XM_011533989.2:c.842A>C, XM_011533989.1:c.842A>C, XM_047448683.1:c.842A>C, NP_002962.1:p.Gln281Pro, NP_001124482.1:p.Gln281Pro, NP_001182399.1:p.Gln281Pro, NP_001309800.1:p.Gln281Pro, NP_001309802.1:p.Gln281Pro, NP_001309801.1:p.Gln281Pro, NP_001309803.1:p.Gln281Pro, NP_001309804.1:p.Gln281Pro, NP_001309805.1:p.Gln209Pro, XP_011532292.1:p.Gln281Pro, XP_011532290.1:p.Gln281Pro, XP_011532291.1:p.Gln281Pro, XP_047304639.1:p.Gln281Pro

                        12.

                        rs1477503566 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:18349283 (GRCh38)
                          3:18390775 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:18349282:C:A
                          Gene:
                          SATB1 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.18349283C>A, NC_000003.11:g.18390775C>A, NG_027814.2:g.101306G>T, NM_002971.6:c.2179G>T, NM_002971.5:c.2179G>T, NM_002971.4:c.2179G>T, NM_001131010.4:c.2179G>T, NM_001131010.3:c.2179G>T, NM_001131010.2:c.2179G>T, NM_001195470.3:c.2275G>T, NM_001195470.2:c.2275G>T, NM_001195470.1:c.2275G>T, NM_001322871.2:c.2275G>T, NM_001322871.1:c.2275G>T, NM_001322873.2:c.2179G>T, NM_001322873.1:c.2179G>T, NM_001322872.2:c.2179G>T, NM_001322872.1:c.2179G>T, NM_001322874.2:c.2179G>T, NM_001322874.1:c.2179G>T, NM_001322875.2:c.2179G>T, NM_001322875.1:c.2179G>T, NM_001322876.2:c.1963G>T, NM_001322876.1:c.1963G>T, XM_011533988.4:c.2275G>T, XM_011533988.3:c.2275G>T, XM_011533988.2:c.2275G>T, XM_011533988.1:c.2275G>T, XM_011533989.3:c.2275G>T, XM_011533989.2:c.2275G>T, XM_011533989.1:c.2275G>T, NP_002962.1:p.Asp727Tyr, NP_001124482.1:p.Asp727Tyr, NP_001182399.1:p.Asp759Tyr, NP_001309800.1:p.Asp759Tyr, NP_001309802.1:p.Asp727Tyr, NP_001309801.1:p.Asp727Tyr, NP_001309803.1:p.Asp727Tyr, NP_001309804.1:p.Asp727Tyr, NP_001309805.1:p.Asp655Tyr, XP_011532290.1:p.Asp759Tyr, XP_011532291.1:p.Asp759Tyr

                          13.

                          rs1477296817 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:18416912 (GRCh38)
                            3:18458404 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:18416911:G:A
                            Gene:
                            SATB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000003.12:g.18416912G>A, NC_000003.11:g.18458404G>A, NG_027814.2:g.33677C>T, NM_002971.6:c.378C>T, NM_002971.5:c.378C>T, NM_002971.4:c.378C>T, NM_001131010.4:c.378C>T, NM_001131010.3:c.378C>T, NM_001131010.2:c.378C>T, NM_001195470.3:c.378C>T, NM_001195470.2:c.378C>T, NM_001195470.1:c.378C>T, NM_001322871.2:c.378C>T, NM_001322871.1:c.378C>T, NM_001322873.2:c.378C>T, NM_001322873.1:c.378C>T, NM_001322872.2:c.378C>T, NM_001322872.1:c.378C>T, NM_001322874.2:c.378C>T, NM_001322874.1:c.378C>T, NM_001322875.2:c.378C>T, NM_001322875.1:c.378C>T, NM_001322876.2:c.162C>T, NM_001322876.1:c.162C>T, XM_011533990.4:c.378C>T, XM_011533990.3:c.378C>T, XM_011533990.2:c.378C>T, XM_011533990.1:c.378C>T, XM_011533988.4:c.378C>T, XM_011533988.3:c.378C>T, XM_011533988.2:c.378C>T, XM_011533988.1:c.378C>T, XM_011533989.3:c.378C>T, XM_011533989.2:c.378C>T, XM_011533989.1:c.378C>T, XM_047448683.1:c.378C>T

                            14.

                            rs1476359100 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:18416016 (GRCh38)
                              3:18457508 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:18416015:T:C
                              Gene:
                              SATB1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.18416016T>C, NC_000003.11:g.18457508T>C, NG_027814.2:g.34573A>G, NM_002971.6:c.506A>G, NM_002971.5:c.506A>G, NM_002971.4:c.506A>G, NM_001131010.4:c.506A>G, NM_001131010.3:c.506A>G, NM_001131010.2:c.506A>G, NM_001195470.3:c.506A>G, NM_001195470.2:c.506A>G, NM_001195470.1:c.506A>G, NM_001322871.2:c.506A>G, NM_001322871.1:c.506A>G, NM_001322873.2:c.506A>G, NM_001322873.1:c.506A>G, NM_001322872.2:c.506A>G, NM_001322872.1:c.506A>G, NM_001322874.2:c.506A>G, NM_001322874.1:c.506A>G, NM_001322875.2:c.506A>G, NM_001322875.1:c.506A>G, NM_001322876.2:c.290A>G, NM_001322876.1:c.290A>G, XM_011533990.4:c.506A>G, XM_011533990.3:c.506A>G, XM_011533990.2:c.506A>G, XM_011533990.1:c.506A>G, XM_011533988.4:c.506A>G, XM_011533988.3:c.506A>G, XM_011533988.2:c.506A>G, XM_011533988.1:c.506A>G, XM_011533989.3:c.506A>G, XM_011533989.2:c.506A>G, XM_011533989.1:c.506A>G, XM_047448683.1:c.506A>G, NP_002962.1:p.Gln169Arg, NP_001124482.1:p.Gln169Arg, NP_001182399.1:p.Gln169Arg, NP_001309800.1:p.Gln169Arg, NP_001309802.1:p.Gln169Arg, NP_001309801.1:p.Gln169Arg, NP_001309803.1:p.Gln169Arg, NP_001309804.1:p.Gln169Arg, NP_001309805.1:p.Gln97Arg, XP_011532292.1:p.Gln169Arg, XP_011532290.1:p.Gln169Arg, XP_011532291.1:p.Gln169Arg, XP_047304639.1:p.Gln169Arg

                              15.

                              rs1475934557 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                3:18349395 (GRCh38)
                                3:18390887 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:18349394:G:C
                                Gene:
                                SATB1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.18349395G>C, NC_000003.11:g.18390887G>C, NG_027814.2:g.101194C>G, NM_002971.6:c.2067C>G, NM_002971.5:c.2067C>G, NM_002971.4:c.2067C>G, NM_001131010.4:c.2067C>G, NM_001131010.3:c.2067C>G, NM_001131010.2:c.2067C>G, NM_001195470.3:c.2163C>G, NM_001195470.2:c.2163C>G, NM_001195470.1:c.2163C>G, NM_001322871.2:c.2163C>G, NM_001322871.1:c.2163C>G, NM_001322873.2:c.2067C>G, NM_001322873.1:c.2067C>G, NM_001322872.2:c.2067C>G, NM_001322872.1:c.2067C>G, NM_001322874.2:c.2067C>G, NM_001322874.1:c.2067C>G, NM_001322875.2:c.2067C>G, NM_001322875.1:c.2067C>G, NM_001322876.2:c.1851C>G, NM_001322876.1:c.1851C>G, XM_011533988.4:c.2163C>G, XM_011533988.3:c.2163C>G, XM_011533988.2:c.2163C>G, XM_011533988.1:c.2163C>G, XM_011533989.3:c.2163C>G, XM_011533989.2:c.2163C>G, XM_011533989.1:c.2163C>G, NP_002962.1:p.Ile689Met, NP_001124482.1:p.Ile689Met, NP_001182399.1:p.Ile721Met, NP_001309800.1:p.Ile721Met, NP_001309802.1:p.Ile689Met, NP_001309801.1:p.Ile689Met, NP_001309803.1:p.Ile689Met, NP_001309804.1:p.Ile689Met, NP_001309805.1:p.Ile617Met, XP_011532290.1:p.Ile721Met, XP_011532291.1:p.Ile721Met

                                16.

                                rs1473630757 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:18416093 (GRCh38)
                                  3:18457585 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:18416092:A:G
                                  Gene:
                                  SATB1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.18416093A>G, NC_000003.11:g.18457585A>G, NG_027814.2:g.34496T>C, NM_002971.6:c.429T>C, NM_002971.5:c.429T>C, NM_002971.4:c.429T>C, NM_001131010.4:c.429T>C, NM_001131010.3:c.429T>C, NM_001131010.2:c.429T>C, NM_001195470.3:c.429T>C, NM_001195470.2:c.429T>C, NM_001195470.1:c.429T>C, NM_001322871.2:c.429T>C, NM_001322871.1:c.429T>C, NM_001322873.2:c.429T>C, NM_001322873.1:c.429T>C, NM_001322872.2:c.429T>C, NM_001322872.1:c.429T>C, NM_001322874.2:c.429T>C, NM_001322874.1:c.429T>C, NM_001322875.2:c.429T>C, NM_001322875.1:c.429T>C, NM_001322876.2:c.213T>C, NM_001322876.1:c.213T>C, XM_011533990.4:c.429T>C, XM_011533990.3:c.429T>C, XM_011533990.2:c.429T>C, XM_011533990.1:c.429T>C, XM_011533988.4:c.429T>C, XM_011533988.3:c.429T>C, XM_011533988.2:c.429T>C, XM_011533988.1:c.429T>C, XM_011533989.3:c.429T>C, XM_011533989.2:c.429T>C, XM_011533989.1:c.429T>C, XM_047448683.1:c.429T>C

                                  17.

                                  rs1470099709 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:18349620 (GRCh38)
                                    3:18391112 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:18349619:T:G
                                    Gene:
                                    SATB1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1467462118 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:18420921 (GRCh38)
                                      3:18462413 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:18420920:A:G
                                      Gene:
                                      SATB1 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_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_000003.12:g.18420921A>G, NC_000003.11:g.18462413A>G, NG_027814.2:g.29668T>C, NM_002971.6:c.47T>C, NM_002971.5:c.47T>C, NM_002971.4:c.47T>C, NM_001131010.4:c.47T>C, NM_001131010.3:c.47T>C, NM_001131010.2:c.47T>C, NM_001195470.3:c.47T>C, NM_001195470.2:c.47T>C, NM_001195470.1:c.47T>C, NM_001322871.2:c.47T>C, NM_001322871.1:c.47T>C, NM_001322873.2:c.47T>C, NM_001322873.1:c.47T>C, NM_001322872.2:c.47T>C, NM_001322872.1:c.47T>C, NM_001322874.2:c.47T>C, NM_001322874.1:c.47T>C, NM_001322875.2:c.47T>C, NM_001322875.1:c.47T>C, XM_011533990.4:c.47T>C, XM_011533990.3:c.47T>C, XM_011533990.2:c.47T>C, XM_011533990.1:c.47T>C, XM_011533988.4:c.47T>C, XM_011533988.3:c.47T>C, XM_011533988.2:c.47T>C, XM_011533988.1:c.47T>C, XM_011533989.3:c.47T>C, XM_011533989.2:c.47T>C, XM_011533989.1:c.47T>C, XM_047448683.1:c.47T>C, NP_002962.1:p.Met16Thr, NP_001124482.1:p.Met16Thr, NP_001182399.1:p.Met16Thr, NP_001309800.1:p.Met16Thr, NP_001309802.1:p.Met16Thr, NP_001309801.1:p.Met16Thr, NP_001309803.1:p.Met16Thr, NP_001309804.1:p.Met16Thr, XP_011532292.1:p.Met16Thr, XP_011532290.1:p.Met16Thr, XP_011532291.1:p.Met16Thr, XP_047304639.1:p.Met16Thr

                                      19.

                                      rs1462956056 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:18349680 (GRCh38)
                                        3:18391172 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:18349679:T:C
                                        Gene:
                                        SATB1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1462249661 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:18349466 (GRCh38)
                                          3:18390958 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:18349465:C:T
                                          Gene:
                                          SATB1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000003.12:g.18349466C>T, NC_000003.11:g.18390958C>T, NG_027814.2:g.101123G>A, NM_002971.6:c.1996G>A, NM_002971.5:c.1996G>A, NM_002971.4:c.1996G>A, NM_001131010.4:c.1996G>A, NM_001131010.3:c.1996G>A, NM_001131010.2:c.1996G>A, NM_001195470.3:c.2092G>A, NM_001195470.2:c.2092G>A, NM_001195470.1:c.2092G>A, NM_001322871.2:c.2092G>A, NM_001322871.1:c.2092G>A, NM_001322873.2:c.1996G>A, NM_001322873.1:c.1996G>A, NM_001322872.2:c.1996G>A, NM_001322872.1:c.1996G>A, NM_001322874.2:c.1996G>A, NM_001322874.1:c.1996G>A, NM_001322875.2:c.1996G>A, NM_001322875.1:c.1996G>A, NM_001322876.2:c.1780G>A, NM_001322876.1:c.1780G>A, XM_011533988.4:c.2092G>A, XM_011533988.3:c.2092G>A, XM_011533988.2:c.2092G>A, XM_011533988.1:c.2092G>A, XM_011533989.3:c.2092G>A, XM_011533989.2:c.2092G>A, XM_011533989.1:c.2092G>A, NP_002962.1:p.Val666Met, NP_001124482.1:p.Val666Met, NP_001182399.1:p.Val698Met, NP_001309800.1:p.Val698Met, NP_001309802.1:p.Val666Met, NP_001309801.1:p.Val666Met, NP_001309803.1:p.Val666Met, NP_001309804.1:p.Val666Met, NP_001309805.1:p.Val594Met, XP_011532290.1:p.Val698Met, XP_011532291.1:p.Val698Met

                                          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...