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Items: 1 to 20 of 333

1.

rs1490072147 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:35121830 (GRCh38)
    17:33448849 (GRCh37)
    Canonical SPDI:
    NC_000017.11:35121829:C:T
    Gene:
    RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
    HGVS:
    2.

    rs1489786738 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GTC [Show Flanks]
      Chromosome:
      17:35121824 (GRCh38)
      17:33448844 (GRCh37)
      Canonical SPDI:
      NC_000017.11:35121824:CGTC:CGTCGTC
      Gene:
      RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_insertion,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      CGT=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1486878443 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        17:35121720 (GRCh38)
        17:33448739 (GRCh37)
        Canonical SPDI:
        NC_000017.11:35121719:GGG:GG
        Gene:
        RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0./0 (ALFA)
        -=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1485586150 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:35127124 (GRCh38)
          17:33454143 (GRCh37)
          Canonical SPDI:
          NC_000017.11:35127123:A:G
          Gene:
          FNDC8 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1481936867 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:35127403 (GRCh38)
            17:33454422 (GRCh37)
            Canonical SPDI:
            NC_000017.11:35127402:A:G
            Gene:
            FNDC8 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_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:
            6.

            rs1480501242 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              17:35130343 (GRCh38)
              17:33457362 (GRCh37)
              Canonical SPDI:
              NC_000017.11:35130342:T:G
              Gene:
              NLE1 (Varview), FNDC8 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1476617749 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:35127321 (GRCh38)
                17:33454340 (GRCh37)
                Canonical SPDI:
                NC_000017.11:35127320:A:G
                Gene:
                FNDC8 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1465679721 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  17:35121749 (GRCh38)
                  17:33448768 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:35121748:A:T
                  Gene:
                  RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1460808091 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:35121763 (GRCh38)
                    17:33448782 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:35121762:A:G
                    Gene:
                    RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1459979734 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      17:35129569 (GRCh38)
                      17:33456588 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:35129568:C:G
                      Gene:
                      NLE1 (Varview), FNDC8 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1457654196 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:35121785 (GRCh38)
                        17:33448804 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:35121784:T:C
                        Gene:
                        RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1453040200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:35129480 (GRCh38)
                          17:33456499 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:35129479:A:G
                          Gene:
                          NLE1 (Varview), FNDC8 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1447797364 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:35127121 (GRCh38)
                            17:33454140 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:35127120:C:A
                            Gene:
                            FNDC8 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1446533208 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:35127151 (GRCh38)
                              17:33454170 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:35127150:A:G
                              Gene:
                              FNDC8 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1446423311 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                17:35129646 (GRCh38)
                                17:33456665 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:35129645:C:G,NC_000017.11:35129645:C:T
                                Gene:
                                NLE1 (Varview), FNDC8 (Varview)
                                Functional Consequence:
                                synonymous_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1433675700 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:35127223 (GRCh38)
                                  17:33454242 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:35127222:G:A
                                  Gene:
                                  FNDC8 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1433337410 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:35127154 (GRCh38)
                                    17:33454173 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:35127153:A:G
                                    Gene:
                                    FNDC8 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.00035/6 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1426937681 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      17:35121882 (GRCh38)
                                      17:33448901 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:35121881:G:C
                                      Gene:
                                      FNDC8 (Varview), RAD51L3-RFFL (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000028/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1424935930 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:35130414 (GRCh38)
                                        17:33457433 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:35130413:G:A
                                        Gene:
                                        NLE1 (Varview), FNDC8 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000031/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1423921631 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:35127311 (GRCh38)
                                          17:33454330 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:35127310:A:G
                                          Gene:
                                          FNDC8 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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