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Items: 1 to 20 of 110

1.

rs781458494 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    3:51969997 (GRCh38)
    3:52004013 (GRCh37)
    Canonical SPDI:
    NC_000003.12:51969996:T:A
    Gene:
    ABHD14B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    A=0.000008/1 (ExAC)
    HGVS:
    2.

    rs781209309 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AGCTGGGAGCCAGGG>- [Show Flanks]
      Chromosome:
      3:51970013 (GRCh38)
      3:52004029 (GRCh37)
      Canonical SPDI:
      NC_000003.12:51970009:GGGAGCTGGGAGCCAGGG:GGG
      Gene:
      ABHD14B (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_deletion
      Validated:
      by frequency
      MAF:
      -=0.000008/1 (ExAC)
      HGVS:
      3.

      rs780905620 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        3:51969569 (GRCh38)
        3:52003585 (GRCh37)
        Canonical SPDI:
        NC_000003.12:51969568:T:G
        Gene:
        ABHD14B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        G=0.000008/1 (ExAC)
        HGVS:
        4.

        rs780459873 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:51970014 (GRCh38)
          3:52004030 (GRCh37)
          Canonical SPDI:
          NC_000003.12:51970013:G:A
          Gene:
          ABHD14B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/1 (ExAC)
          HGVS:
          5.

          rs779422501 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            3:51971533 (GRCh38)
            3:52005549 (GRCh37)
            Canonical SPDI:
            NC_000003.12:51971532:C:G,NC_000003.12:51971532:C:T
            Gene:
            ABHD14B (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000043/1 (ALFA)
            T=0.000008/2 (GnomAD_exomes)
            T=0.000014/2 (GnomAD)
            T=0.000017/2 (ExAC)
            T=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs778306286 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:51971514 (GRCh38)
              3:52005530 (GRCh37)
              Canonical SPDI:
              NC_000003.12:51971513:T:C
              Gene:
              ABHD14B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              C=0.000009/1 (ExAC)
              HGVS:
              7.

              rs778115467 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                3:51970170 (GRCh38)
                3:52004187 (GRCh37)
                Canonical SPDI:
                NC_000003.12:51970170::A
                Gene:
                ABHD14B (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000098/2 (ALFA)
                A=0.000005/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                A=0.000009/1 (ExAC)
                A=0.00016/2 (GoESP)
                HGVS:
                8.

                rs777528771 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  3:51969444 (GRCh38)
                  3:52003460 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:51969443:G:T
                  Gene:
                  PCBP4 (Varview), ABHD14B (Varview)
                  Functional Consequence:
                  missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/1 (ExAC)
                  HGVS:
                  9.

                  rs777426785 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:51971647 (GRCh38)
                    3:52005663 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:51971646:G:A
                    Gene:
                    ABHD14B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000008/2 (TOPMED)
                    A=0.000009/1 (ExAC)
                    HGVS:
                    10.

                    rs776627938 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:51971576 (GRCh38)
                      3:52005592 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:51971575:C:T
                      Gene:
                      ABHD14B (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000028/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/1 (ExAC)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      11.
                      12.

                      rs775424639 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        3:51969491 (GRCh38)
                        3:52003507 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:51969490:A:
                        Gene:
                        ABHD14B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0./0 (TWINSUK)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000008/2 (TOPMED)
                        -=0.000029/4 (GnomAD)
                        -=0.000259/1 (ALSPAC)
                        HGVS:
                        13.

                        rs775290445 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          3:51970081 (GRCh38)
                          3:52004097 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:51970080:C:G,NC_000003.12:51970080:C:T
                          Gene:
                          ABHD14B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000009/1 (ExAC)
                          T=0.000014/2 (GnomAD)
                          T=0.000019/5 (TOPMED)
                          HGVS:
                          14.

                          rs775207098 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:51969598 (GRCh38)
                            3:52003614 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:51969597:G:A
                            Gene:
                            ABHD14B (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (TWINSUK)
                            A=0.000007/1 (GnomAD)
                            A=0.000009/1 (ExAC)
                            A=0.000011/3 (TOPMED)
                            A=0.000012/3 (GnomAD_exomes)
                            A=0.000259/1 (ALSPAC)
                            A=0.00463/1 (Qatari)
                            HGVS:
                            15.

                            rs774861827 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              3:51970031 (GRCh38)
                              3:52004047 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:51970030:G:A,NC_000003.12:51970030:G:T
                              Gene:
                              ABHD14B (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              A=0.000028/7 (GnomAD_exomes)
                              A=0.000041/5 (ExAC)
                              A=0.00006/1 (TOMMO)
                              HGVS:
                              16.

                              rs774537719 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:51969503 (GRCh38)
                                3:52003519 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:51969502:C:T
                                Gene:
                                ABHD14B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000008/1 (ExAC)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs773108242 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:51971558 (GRCh38)
                                  3:52005574 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:51971557:A:C
                                  Gene:
                                  ABHD14B (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000008/1 (ExAC)
                                  HGVS:
                                  18.

                                  rs772627435 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    3:51970172 (GRCh38)
                                    3:52004188 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:51970171:G:C
                                    Gene:
                                    ABHD14B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/2 (GnomAD_exomes)
                                    C=0.000019/2 (ExAC)
                                    C=0.000036/5 (GnomAD)
                                    C=0.000045/12 (TOPMED)
                                    HGVS:
                                    19.

                                    rs772084428 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      3:51971460 (GRCh38)
                                      3:52005476 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:51971459:C:A,NC_000003.12:51971459:C:G,NC_000003.12:51971459:C:T
                                      Gene:
                                      ABHD14B (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000042/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      G=0.000018/4 (GnomAD_exomes)
                                      G=0.000025/2 (ExAC)
                                      T=0.00006/1 (TOMMO)
                                      HGVS:
                                      20.

                                      rs771815830 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:51971639 (GRCh38)
                                        3:52005655 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:51971638:G:A
                                        Gene:
                                        ABHD14B (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000043/5 (ExAC)
                                        A=0.00006/15 (GnomAD_exomes)
                                        G=0.5/1 (SGDP_PRJ)
                                        HGVS:

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