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Links from Gene

Items: 1 to 20 of 39

1.

rs1466984364 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    4:9353625 (GRCh38)
    4:9355351 (GRCh37)
    Canonical SPDI:
    NC_000004.12:9353624:C:G,NC_000004.12:9353624:C:T
    Gene:
    USP17L29 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.3/2 (SGDP_PRJ)
    HGVS:
    2.

    rs1457059970 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:9354186 (GRCh38)
      4:9355912 (GRCh37)
      Canonical SPDI:
      NC_000004.12:9354185:A:G
      Gene:
      USP17L29 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      HGVS:
      3.

      rs1444758802 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        4:9353704 (GRCh38)
        4:9355430 (GRCh37)
        Canonical SPDI:
        NC_000004.12:9353703:T:C,NC_000004.12:9353703:T:G
        Gene:
        USP17L29 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0./0 (SGDP_PRJ)
        HGVS:
        4.

        rs1426602273 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CT [Show Flanks]
          Chromosome:
          4:9353596 (GRCh38)
          4:9355323 (GRCh37)
          Canonical SPDI:
          NC_000004.12:9353596::CT
          Gene:
          USP17L29 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1415005158 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            4:9353602 (GRCh38)
            4:9355328 (GRCh37)
            Canonical SPDI:
            NC_000004.12:9353601:C:G
            Gene:
            USP17L29 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            HGVS:
            6.

            rs1399838584 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              4:9353664 (GRCh38)
              4:9355390 (GRCh37)
              Canonical SPDI:
              NC_000004.12:9353663:A:T
              Gene:
              USP17L29 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              7.

              rs1368343759 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:9353796 (GRCh38)
                4:9355522 (GRCh37)
                Canonical SPDI:
                NC_000004.12:9353795:T:C
                Gene:
                USP17L29 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.1/1 (SGDP_PRJ)
                C=0.301/80 (KOREAN)
                HGVS:
                8.

                rs1357267580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  4:9353623 (GRCh38)
                  4:9355349 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:9353622:C:A
                  Gene:
                  USP17L29 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  HGVS:
                  9.

                  rs1320518418 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    4:9354081 (GRCh38)
                    4:9355807 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:9354080:A:T
                    Gene:
                    USP17L29 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.27/24 (KOREAN)
                    A=0.5/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1299793610 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      4:9354018 (GRCh38)
                      4:9355744 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:9354017:T:G
                      Gene:
                      USP17L29 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      HGVS:
                      11.

                      rs1257760447 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:9354185 (GRCh38)
                        4:9355911 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:9354184:T:C
                        Gene:
                        USP17L29 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by cluster
                        HGVS:
                        12.

                        rs1219197566 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          4:9353833 (GRCh38)
                          4:9355559 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:9353832:G:T
                          Gene:
                          USP17L29 (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant
                          Validated:
                          by cluster
                          HGVS:
                          13.

                          rs1199669768 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:9354120 (GRCh38)
                            4:9355846 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:9354119:C:T
                            Gene:
                            USP17L29 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by cluster
                            HGVS:
                            14.

                            rs1176256651 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              4:9353594 (GRCh38)
                              4:9355320 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:9353593:T:G
                              Gene:
                              USP17L29 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              HGVS:
                              15.

                              rs1175237417 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:9353603 (GRCh38)
                                4:9355329 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:9353602:A:G
                                Gene:
                                USP17L29 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                HGVS:
                                16.

                                rs879730040 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  4:9353292 (GRCh38)
                                  4:9355018 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:9353291:A:T
                                  Gene:
                                  USP17L29 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  HGVS:
                                  17.

                                  rs879660645 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    4:9353109 (GRCh38)
                                    4:9354835 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:9353108:T:G
                                    Gene:
                                    USP17L29 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    18.

                                    rs879507987 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:9353184 (GRCh38)
                                      4:9354910 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:9353183:A:G
                                      Gene:
                                      USP17L29 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      HGVS:
                                      19.

                                      rs879432615 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        4:9353212 (GRCh38)
                                        4:9354938 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:9353211:C:A
                                        Gene:
                                        USP17L29 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        HGVS:
                                        20.

                                        rs879278985 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          4:9353227 (GRCh38)
                                          4:9354953 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:9353226:G:T
                                          Gene:
                                          USP17L29 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          HGVS:

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