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Links from Protein

Items: 1 to 20 of 63

1.

rs1482909841 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:70288465 (GRCh38)
    X:69508315 (GRCh37)
    Canonical SPDI:
    NC_000023.11:70288464:G:A
    Gene:
    KIF4A (Varview), PDZD11 (Varview)
    Functional Consequence:
    stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000005/1 (GnomAD_exomes)
    HGVS:
    2.
    3.

    rs1451694735 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      X:70288121 (GRCh38)
      X:69507971 (GRCh37)
      Canonical SPDI:
      NC_000023.11:70288120:G:C
      Gene:
      KIF4A (Varview), PDZD11 (Varview)
      Functional Consequence:
      upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.00001/1 (GnomAD)
      HGVS:
      4.
      5.

      rs1419687353 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        X:70288505 (GRCh38)
        X:69508355 (GRCh37)
        Canonical SPDI:
        NC_000023.11:70288504:G:T
        Gene:
        KIF4A (Varview), PDZD11 (Varview)
        Functional Consequence:
        missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.00001/1 (GnomAD)
        HGVS:
        6.

        rs1405843580 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:70288173 (GRCh38)
          X:69508023 (GRCh37)
          Canonical SPDI:
          NC_000023.11:70288172:A:G
          Gene:
          KIF4A (Varview), PDZD11 (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          9.

          rs1366941463 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:70288158 (GRCh38)
            X:69508008 (GRCh37)
            Canonical SPDI:
            NC_000023.11:70288157:G:A
            Gene:
            KIF4A (Varview), PDZD11 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            A=0.00001/1 (GnomAD)
            HGVS:
            10.

            rs1366939574 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:70289321 (GRCh38)
              X:69509171 (GRCh37)
              Canonical SPDI:
              NC_000023.11:70289320:A:G
              Gene:
              KIF4A (Varview), PDZD11 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              11.
              12.

              rs1354425450 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:70287313 (GRCh38)
                X:69507163 (GRCh37)
                Canonical SPDI:
                NC_000023.11:70287312:A:G
                Gene:
                PDZD11 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.00001/1 (GnomAD)
                HGVS:
                13.
                14.

                rs1342537766 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:70288144 (GRCh38)
                  X:69507994 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:70288143:G:A
                  Gene:
                  KIF4A (Varview), PDZD11 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  17.

                  rs1307792856 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:70287100 (GRCh38)
                    X:69506950 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:70287099:T:C
                    Gene:
                    PDZD11 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000013/2 (GnomAD_exomes)
                    HGVS:
                    18.

                    rs1301731408 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:70287289 (GRCh38)
                      X:69507139 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:70287288:G:A
                      Gene:
                      PDZD11 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.00001/1 (GnomAD)
                      HGVS:
                      19.

                      rs1295763271 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:70287735 (GRCh38)
                        X:69507585 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:70287734:G:A
                        Gene:
                        PDZD11 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000005/1 (GnomAD_exomes)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        20.

                        rs1281885601 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:70287750 (GRCh38)
                          X:69507600 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:70287749:T:C
                          Gene:
                          PDZD11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:

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