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Items: 1 to 20 of 2386

1.

rs1491254715 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>CC
    Chromosome:
    3:149968581
    Gene:
    PFN2 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    NC_000003.12:g.149968581dup, NC_000003.11:g.149686368dup, NG_029114.1:g.7374dup
    2.

    rs1490928327 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A
      Chromosome:
      3:149968634
      Gene:
      PFN2 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      NC_000003.12:g.149968634G>A, NC_000003.11:g.149686421G>A, NG_029114.1:g.7321C>T
      3.

      rs1490860006 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGG>GGGG
        Chromosome:
        3:149965706
        Gene:
        PFN2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by cluster
        HGVS:
        NC_000003.12:g.149965708dup, NC_000003.11:g.149683495dup, NG_029114.1:g.10249dup, NM_002628.4:c.*461dup, NM_002628.5:c.*461dup, NM_053024.3:c.*783dup, NM_053024.4:c.*783dup
        4.

        rs1489840441 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G
          Chromosome:
          3:149964410
          Gene:
          PFN2 (Varview)
          Functional Consequence:
          downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.0000/1 (GnomAD)
          HGVS:
          NC_000003.12:g.149964410A>G, NC_000003.11:g.149682197A>G, NG_029114.1:g.11545T>C
          5.

          rs1489824898 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAA>AAAAAAAA
            Chromosome:
            3:149967179
            Gene:
            PFN2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.0000/2 (TOPMED)
            A=0.0001/2 (GnomAD)
            HGVS:
            NC_000003.12:g.149967185dup, NC_000003.11:g.149684972dup, NG_029114.1:g.8776dup
            6.

            rs1489376221 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G
              Chromosome:
              3:149972032
              Gene:
              PFN2 (Varview), LOC646903 (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.0000/1 (TOPMED)
              HGVS:
              NC_000003.12:g.149972032A>G, NC_000003.11:g.149689819A>G, NG_029114.1:g.3923T>C, NR_036538.1:n.754A>G
              7.

              rs1489195537 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T
                Chromosome:
                3:149970118
                Gene:
                PFN2 (Varview), LOC646903 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.0000/1 (TOPMED)
                HGVS:
                NC_000003.12:g.149970118C>T, NC_000003.11:g.149687905C>T, NG_029114.1:g.5837G>A
                8.

                rs1488708728 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G
                  Chromosome:
                  3:149967953
                  Gene:
                  PFN2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.0000/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.149967953A>G, NC_000003.11:g.149685740A>G, NG_029114.1:g.8002T>C
                  9.

                  rs1488217114 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C
                    Chromosome:
                    3:149969855
                    Gene:
                    PFN2 (Varview), LOC646903 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.0000/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.149969855T>C, NC_000003.11:g.149687642T>C, NG_029114.1:g.6100A>G
                    10.

                    rs1487705521 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CCC>-
                      Chromosome:
                      3:149969181
                      Gene:
                      PFN2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.0000/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.149969181_149969183del, NC_000003.11:g.149686968_149686970del, NG_029114.1:g.6772_6774del
                      11.

                      rs1486760958 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T
                        Chromosome:
                        3:149971633
                        Gene:
                        PFN2 (Varview), LOC646903 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.0000/2 (TOPMED)
                        HGVS:
                        NC_000003.12:g.149971633C>A, NC_000003.12:g.149971633C>T, NC_000003.11:g.149689420C>A, NC_000003.11:g.149689420C>T, NG_029114.1:g.4322G>T, NG_029114.1:g.4322G>A, NR_036538.1:n.355C>A, NR_036538.1:n.355C>T
                        12.

                        rs1486751690 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A
                          Chromosome:
                          3:149966151
                          Gene:
                          PFN2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.0000/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.149966151G>A, NC_000003.11:g.149683938G>A, NG_029114.1:g.9804C>T, NM_002628.4:c.*16C>T, NM_002628.5:c.*16C>T, NM_053024.3:c.*338C>T, NM_053024.4:c.*338C>T
                          13.

                          rs1486567395 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G
                            Chromosome:
                            3:149964690
                            Gene:
                            PFN2 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.0000/2 (TOPMED)
                            HGVS:
                            NC_000003.12:g.149964690A>G, NC_000003.11:g.149682477A>G, NG_029114.1:g.11265T>C
                            14.

                            rs1486566228 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A
                              Chromosome:
                              3:149970898
                              Gene:
                              PFN2 (Varview), LOC646903 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.0000/2 (TOPMED)
                              HGVS:
                              NC_000003.12:g.149970898C>A, NC_000003.11:g.149688685C>A, NG_029114.1:g.5057G>T, NM_002628.4:c.-42G>T, NM_053024.3:c.-42G>T
                              15.

                              rs1485897828 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A
                                Chromosome:
                                3:149970998
                                Gene:
                                PFN2 (Varview), LOC646903 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.0000/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.149970998C>A, NC_000003.11:g.149688785C>A, NG_029114.1:g.4957G>T
                                16.

                                rs1485563078 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T
                                  Chromosome:
                                  3:149965711
                                  Gene:
                                  PFN2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  HGVS:
                                  NC_000003.12:g.149965711G>T, NC_000003.11:g.149683498G>T, NG_029114.1:g.10244C>A, NM_002628.4:c.*456C>A, NM_002628.5:c.*456C>A, NM_053024.3:c.*778C>A, NM_053024.4:c.*778C>A
                                  17.

                                  rs1485560623 has merged into rs1032526922 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GCGTGCGTGCG>GCGTGCG,GCGTGCGTGCGTGCG
                                    Chromosome:
                                    3:149971199
                                    Gene:
                                    PFN2 (Varview), LOC646903 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.0000/5 (TOPMED)
                                    GCGT=0.0003/9 (GnomAD)
                                    GCGT=0.0004/2 (Estonian)
                                    GCGT=0.0183/11 (NorthernSweden)
                                    HGVS:
                                    NC_000003.12:g.149971202_149971205TGCG[1], NC_000003.12:g.149971202_149971205TGCG[3], NC_000003.11:g.149688989_149688992TGCG[1], NC_000003.11:g.149688989_149688992TGCG[3], NG_029114.1:g.4749_4752ACGC[1], NG_029114.1:g.4749_4752ACGC[3]
                                    18.

                                    rs1485511448 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G
                                      Chromosome:
                                      3:149966755
                                      Gene:
                                      PFN2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:
                                      NC_000003.12:g.149966755A>G, NC_000003.11:g.149684542A>G, NG_029114.1:g.9200T>C
                                      19.

                                      rs1485491427 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CATGACAT>CAT
                                        Chromosome:
                                        3:149966051
                                        Gene:
                                        PFN2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.0000/1 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.149966054_149966058del, NC_000003.11:g.149683841_149683845del, NG_029114.1:g.9900_9904del, NM_002628.4:c.*112_*116del, NM_002628.5:c.*112_*116del, NM_053024.3:c.*434_*438del, NM_053024.4:c.*434_*438del
                                        20.

                                        rs1485024068 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C
                                          Chromosome:
                                          3:149966234
                                          Gene:
                                          PFN2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.0000/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.149966234A>C, NC_000003.11:g.149684021A>C, NG_029114.1:g.9721T>G, NM_002628.4:c.356T>G, NM_002628.5:c.356T>G, NM_053024.3:c.*255T>G, NM_053024.4:c.*255T>G, NP_002619.1:p.Val119Gly

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