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Items: 1 to 20 of 1000

1.

rs1491543788 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    7:106862565 (GRCh38)
    7:106503010 (GRCh37)
    Canonical SPDI:
    NC_000007.14:106862562:AGAG:AG
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAG=0.000071/1 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1491104117 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TT [Show Flanks]
      Chromosome:
      7:106862563 (GRCh38)
      7:106503009 (GRCh37)
      Canonical SPDI:
      NC_000007.14:106862563::TT
      Validated:
      by frequency
      MAF:
      TT=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490939594 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:106887427 (GRCh38)
        7:106527872 (GRCh37)
        Canonical SPDI:
        NC_000007.14:106887426:A:G
        Gene:
        PIK3CG (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490932794 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          7:106904833 (GRCh38)
          7:106545278 (GRCh37)
          Canonical SPDI:
          NC_000007.14:106904832:A:T
          Gene:
          PIK3CG (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490911021 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            7:106869822 (GRCh38)
            7:106510267 (GRCh37)
            Canonical SPDI:
            NC_000007.14:106869821:A:G,NC_000007.14:106869821:A:T
            Gene:
            PIK3CG (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490792779 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:106882250 (GRCh38)
              7:106522695 (GRCh37)
              Canonical SPDI:
              NC_000007.14:106882249:T:C
              Gene:
              PIK3CG (Varview)
              Functional Consequence:
              downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              8.

              rs1490676203 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                7:106876871 (GRCh38)
                7:106517316 (GRCh37)
                Canonical SPDI:
                NC_000007.14:106876870:T:A,NC_000007.14:106876870:T:G
                Gene:
                PIK3CG (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                9.

                rs1490650861 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:106877943 (GRCh38)
                  7:106518388 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:106877942:C:T
                  Gene:
                  PIK3CG (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1490622060 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:106893888 (GRCh38)
                    7:106534333 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:106893887:A:G
                    Gene:
                    PIK3CG (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1490607820 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:106861206 (GRCh38)
                      7:106501651 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:106861205:T:C
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      12.

                      rs1490458546 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        7:106878734 (GRCh38)
                        7:106519179 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:106878733:C:A
                        Gene:
                        PIK3CG (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1490428800 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          7:106894885 (GRCh38)
                          7:106535330 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:106894884:C:A
                          Gene:
                          PIK3CG (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1490371970 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:106896247 (GRCh38)
                            7:106536692 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:106896246:G:A
                            Gene:
                            PIK3CG (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            15.

                            rs1490239923 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              7:106894437 (GRCh38)
                              7:106534882 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:106894436:T:G
                              Gene:
                              PIK3CG (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              16.

                              rs1490190940 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                7:106886170 (GRCh38)
                                7:106526615 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:106886169:G:A,NC_000007.14:106886169:G:C,NC_000007.14:106886169:G:T
                                Gene:
                                PIK3CG (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.106886170G>A, NC_000007.14:g.106886170G>C, NC_000007.14:g.106886170G>T, NC_000007.13:g.106526615G>A, NC_000007.13:g.106526615G>C, NC_000007.13:g.106526615G>T, NG_050579.1:g.25893G>A, NG_050579.1:g.25893G>C, NG_050579.1:g.25893G>T, NM_002649.3:c.2908G>A, NM_002649.3:c.2908G>C, NM_002649.3:c.2908G>T, NM_002649.2:c.2908G>A, NM_002649.2:c.2908G>C, NM_002649.2:c.2908G>T, NM_001282426.2:c.2908G>A, NM_001282426.2:c.2908G>C, NM_001282426.2:c.2908G>T, NM_001282426.1:c.2908G>A, NM_001282426.1:c.2908G>C, NM_001282426.1:c.2908G>T, NM_001282427.2:c.2908G>A, NM_001282427.2:c.2908G>C, NM_001282427.2:c.2908G>T, NM_001282427.1:c.2908G>A, NM_001282427.1:c.2908G>C, NM_001282427.1:c.2908G>T, XM_005250443.4:c.2908G>A, XM_005250443.4:c.2908G>C, XM_005250443.4:c.2908G>T, XM_005250443.3:c.2908G>A, XM_005250443.3:c.2908G>C, XM_005250443.3:c.2908G>T, XM_005250443.2:c.2908G>A, XM_005250443.2:c.2908G>C, XM_005250443.2:c.2908G>T, XM_005250443.1:c.2908G>A, XM_005250443.1:c.2908G>C, XM_005250443.1:c.2908G>T, XM_017012328.2:c.2908G>A, XM_017012328.2:c.2908G>C, XM_017012328.2:c.2908G>T, XM_017012328.1:c.2908G>A, XM_017012328.1:c.2908G>C, XM_017012328.1:c.2908G>T, XM_011516316.2:c.2908G>A, XM_011516316.2:c.2908G>C, XM_011516316.2:c.2908G>T, XM_011516316.1:c.2908G>A, XM_011516316.1:c.2908G>C, XM_011516316.1:c.2908G>T, XM_047420479.1:c.2908G>A, XM_047420479.1:c.2908G>C, XM_047420479.1:c.2908G>T, NP_002640.2:p.Gly970Arg, NP_002640.2:p.Gly970Arg, NP_002640.2:p.Gly970Trp, NP_001269355.1:p.Gly970Arg, NP_001269355.1:p.Gly970Arg, NP_001269355.1:p.Gly970Trp, NP_001269356.1:p.Gly970Arg, NP_001269356.1:p.Gly970Arg, NP_001269356.1:p.Gly970Trp, XP_005250500.1:p.Gly970Arg, XP_005250500.1:p.Gly970Arg, XP_005250500.1:p.Gly970Trp, XP_016867817.1:p.Gly970Arg, XP_016867817.1:p.Gly970Arg, XP_016867817.1:p.Gly970Trp, XP_011514618.1:p.Gly970Arg, XP_011514618.1:p.Gly970Arg, XP_011514618.1:p.Gly970Trp, XP_047276435.1:p.Gly970Arg, XP_047276435.1:p.Gly970Arg, XP_047276435.1:p.Gly970Trp
                                17.

                                rs1490092398 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G,T [Show Flanks]
                                  Chromosome:
                                  7:106869255 (GRCh38)
                                  7:106509700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:106869254:A:C,NC_000007.14:106869254:A:G,NC_000007.14:106869254:A:T
                                  Gene:
                                  PIK3CG (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.106869255A>C, NC_000007.14:g.106869255A>G, NC_000007.14:g.106869255A>T, NC_000007.13:g.106509700A>C, NC_000007.13:g.106509700A>G, NC_000007.13:g.106509700A>T, NG_050579.1:g.8978A>C, NG_050579.1:g.8978A>G, NG_050579.1:g.8978A>T, NM_002649.3:c.1694A>C, NM_002649.3:c.1694A>G, NM_002649.3:c.1694A>T, NM_002649.2:c.1694A>C, NM_002649.2:c.1694A>G, NM_002649.2:c.1694A>T, NM_001282426.2:c.1694A>C, NM_001282426.2:c.1694A>G, NM_001282426.2:c.1694A>T, NM_001282426.1:c.1694A>C, NM_001282426.1:c.1694A>G, NM_001282426.1:c.1694A>T, NM_001282427.2:c.1694A>C, NM_001282427.2:c.1694A>G, NM_001282427.2:c.1694A>T, NM_001282427.1:c.1694A>C, NM_001282427.1:c.1694A>G, NM_001282427.1:c.1694A>T, XM_005250443.4:c.1694A>C, XM_005250443.4:c.1694A>G, XM_005250443.4:c.1694A>T, XM_005250443.3:c.1694A>C, XM_005250443.3:c.1694A>G, XM_005250443.3:c.1694A>T, XM_005250443.2:c.1694A>C, XM_005250443.2:c.1694A>G, XM_005250443.2:c.1694A>T, XM_005250443.1:c.1694A>C, XM_005250443.1:c.1694A>G, XM_005250443.1:c.1694A>T, XM_017012328.2:c.1694A>C, XM_017012328.2:c.1694A>G, XM_017012328.2:c.1694A>T, XM_017012328.1:c.1694A>C, XM_017012328.1:c.1694A>G, XM_017012328.1:c.1694A>T, XM_011516316.2:c.1694A>C, XM_011516316.2:c.1694A>G, XM_011516316.2:c.1694A>T, XM_011516316.1:c.1694A>C, XM_011516316.1:c.1694A>G, XM_011516316.1:c.1694A>T, XM_011516317.2:c.1694A>C, XM_011516317.2:c.1694A>G, XM_011516317.2:c.1694A>T, XM_011516317.1:c.1694A>C, XM_011516317.1:c.1694A>G, XM_011516317.1:c.1694A>T, XM_047420479.1:c.1694A>C, XM_047420479.1:c.1694A>G, XM_047420479.1:c.1694A>T, XM_047420480.1:c.1694A>C, XM_047420480.1:c.1694A>G, XM_047420480.1:c.1694A>T, XM_047420481.1:c.1694A>C, XM_047420481.1:c.1694A>G, XM_047420481.1:c.1694A>T, NP_002640.2:p.Asn565Thr, NP_002640.2:p.Asn565Ser, NP_002640.2:p.Asn565Ile, NP_001269355.1:p.Asn565Thr, NP_001269355.1:p.Asn565Ser, NP_001269355.1:p.Asn565Ile, NP_001269356.1:p.Asn565Thr, NP_001269356.1:p.Asn565Ser, NP_001269356.1:p.Asn565Ile, XP_005250500.1:p.Asn565Thr, XP_005250500.1:p.Asn565Ser, XP_005250500.1:p.Asn565Ile, XP_016867817.1:p.Asn565Thr, XP_016867817.1:p.Asn565Ser, XP_016867817.1:p.Asn565Ile, XP_011514618.1:p.Asn565Thr, XP_011514618.1:p.Asn565Ser, XP_011514618.1:p.Asn565Ile, XP_011514619.1:p.Asn565Thr, XP_011514619.1:p.Asn565Ser, XP_011514619.1:p.Asn565Ile, XP_047276435.1:p.Asn565Thr, XP_047276435.1:p.Asn565Ser, XP_047276435.1:p.Asn565Ile, XP_047276436.1:p.Asn565Thr, XP_047276436.1:p.Asn565Ser, XP_047276436.1:p.Asn565Ile, XP_047276437.1:p.Asn565Thr, XP_047276437.1:p.Asn565Ser, XP_047276437.1:p.Asn565Ile
                                  18.

                                  rs1490061702 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    7:106868238 (GRCh38)
                                    7:106508683 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:106868237:G:A,NC_000007.14:106868237:G:C,NC_000007.14:106868237:G:T
                                    Gene:
                                    PIK3CG (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)
                                    HGVS:
                                    NC_000007.14:g.106868238G>A, NC_000007.14:g.106868238G>C, NC_000007.14:g.106868238G>T, NC_000007.13:g.106508683G>A, NC_000007.13:g.106508683G>C, NC_000007.13:g.106508683G>T, NG_050579.1:g.7961G>A, NG_050579.1:g.7961G>C, NG_050579.1:g.7961G>T, NM_002649.3:c.677G>A, NM_002649.3:c.677G>C, NM_002649.3:c.677G>T, NM_002649.2:c.677G>A, NM_002649.2:c.677G>C, NM_002649.2:c.677G>T, NM_001282426.2:c.677G>A, NM_001282426.2:c.677G>C, NM_001282426.2:c.677G>T, NM_001282426.1:c.677G>A, NM_001282426.1:c.677G>C, NM_001282426.1:c.677G>T, NM_001282427.2:c.677G>A, NM_001282427.2:c.677G>C, NM_001282427.2:c.677G>T, NM_001282427.1:c.677G>A, NM_001282427.1:c.677G>C, NM_001282427.1:c.677G>T, XM_005250443.4:c.677G>A, XM_005250443.4:c.677G>C, XM_005250443.4:c.677G>T, XM_005250443.3:c.677G>A, XM_005250443.3:c.677G>C, XM_005250443.3:c.677G>T, XM_005250443.2:c.677G>A, XM_005250443.2:c.677G>C, XM_005250443.2:c.677G>T, XM_005250443.1:c.677G>A, XM_005250443.1:c.677G>C, XM_005250443.1:c.677G>T, XM_017012328.2:c.677G>A, XM_017012328.2:c.677G>C, XM_017012328.2:c.677G>T, XM_017012328.1:c.677G>A, XM_017012328.1:c.677G>C, XM_017012328.1:c.677G>T, XM_011516316.2:c.677G>A, XM_011516316.2:c.677G>C, XM_011516316.2:c.677G>T, XM_011516316.1:c.677G>A, XM_011516316.1:c.677G>C, XM_011516316.1:c.677G>T, XM_011516317.2:c.677G>A, XM_011516317.2:c.677G>C, XM_011516317.2:c.677G>T, XM_011516317.1:c.677G>A, XM_011516317.1:c.677G>C, XM_011516317.1:c.677G>T, XM_047420479.1:c.677G>A, XM_047420479.1:c.677G>C, XM_047420479.1:c.677G>T, XM_047420480.1:c.677G>A, XM_047420480.1:c.677G>C, XM_047420480.1:c.677G>T, XM_047420481.1:c.677G>A, XM_047420481.1:c.677G>C, XM_047420481.1:c.677G>T, NP_002640.2:p.Arg226His, NP_002640.2:p.Arg226Pro, NP_002640.2:p.Arg226Leu, NP_001269355.1:p.Arg226His, NP_001269355.1:p.Arg226Pro, NP_001269355.1:p.Arg226Leu, NP_001269356.1:p.Arg226His, NP_001269356.1:p.Arg226Pro, NP_001269356.1:p.Arg226Leu, XP_005250500.1:p.Arg226His, XP_005250500.1:p.Arg226Pro, XP_005250500.1:p.Arg226Leu, XP_016867817.1:p.Arg226His, XP_016867817.1:p.Arg226Pro, XP_016867817.1:p.Arg226Leu, XP_011514618.1:p.Arg226His, XP_011514618.1:p.Arg226Pro, XP_011514618.1:p.Arg226Leu, XP_011514619.1:p.Arg226His, XP_011514619.1:p.Arg226Pro, XP_011514619.1:p.Arg226Leu, XP_047276435.1:p.Arg226His, XP_047276435.1:p.Arg226Pro, XP_047276435.1:p.Arg226Leu, XP_047276436.1:p.Arg226His, XP_047276436.1:p.Arg226Pro, XP_047276436.1:p.Arg226Leu, XP_047276437.1:p.Arg226His, XP_047276437.1:p.Arg226Pro, XP_047276437.1:p.Arg226Leu
                                    19.

                                    rs1490033871 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      7:106884556 (GRCh38)
                                      7:106525001 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:106884555:A:T
                                      Gene:
                                      PIK3CG (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490003697 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:106902514 (GRCh38)
                                        7:106542959 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:106902513:A:G
                                        Gene:
                                        PIK3CG (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:

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