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Items: 1 to 20 of 900

1.

rs1490281406 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:100640687 (GRCh38)
    7:100238310 (GRCh37)
    Canonical SPDI:
    NC_000007.14:100640686:T:C
    Gene:
    TFR2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489691312 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      7:100626823 (GRCh38)
      7:100224446 (GRCh37)
      Canonical SPDI:
      NC_000007.14:100626822:G:A,NC_000007.14:100626822:G:T
      Gene:
      TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Clinical significance:
      likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489342348 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:100633095 (GRCh38)
        7:100230718 (GRCh37)
        Canonical SPDI:
        NC_000007.14:100633094:C:T
        Gene:
        TFR2 (Varview), LOC124901709 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489134774 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:100627620 (GRCh38)
          7:100225243 (GRCh37)
          Canonical SPDI:
          NC_000007.14:100627619:G:A
          Gene:
          TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
          Functional Consequence:
          2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487185357 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            7:100626865 (GRCh38)
            7:100224488 (GRCh37)
            Canonical SPDI:
            NC_000007.14:100626864:C:A
            Gene:
            TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
            Clinical significance:
            likely-benign
            HGVS:
            6.

            rs1485782790 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              7:100620909 (GRCh38)
              7:100218532 (GRCh37)
              Canonical SPDI:
              NC_000007.14:100620908:C:A
              Gene:
              TFR2 (Varview), LOC124901709 (Varview)
              Functional Consequence:
              missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1482636801 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:100631033 (GRCh38)
                7:100228656 (GRCh37)
                Canonical SPDI:
                NC_000007.14:100631032:C:T
                Gene:
                TFR2 (Varview), LOC124901709 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                HGVS:
                8.

                rs1482363710 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  7:100620905 (GRCh38)
                  7:100218528 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:100620904:T:C
                  Gene:
                  TFR2 (Varview), LOC124901709 (Varview)
                  Functional Consequence:
                  synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1482296176 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    7:100633032 (GRCh38)
                    7:100230655 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:100633031:A:T
                    Gene:
                    TFR2 (Varview), LOC124901709 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1481234304 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:100628227 (GRCh38)
                      7:100225850 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:100628226:T:C
                      Gene:
                      TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1481229440 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        7:100631000 (GRCh38)
                        7:100228623 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:100630999:A:
                        Gene:
                        TFR2 (Varview), LOC124901709 (Varview)
                        Functional Consequence:
                        frameshift_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1479279170 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:100627633 (GRCh38)
                          7:100225256 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:100627632:C:T
                          Gene:
                          TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.00003/8 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1478674823 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            7:100626807 (GRCh38)
                            7:100224430 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:100626806:T:A,NC_000007.14:100626806:T:C
                            Gene:
                            TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
                            Clinical significance:
                            pathogenic
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000051/1 (ALFA)
                            C=0.000006/1 (GnomAD_exomes)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1477105516 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:100633334 (GRCh38)
                              7:100230957 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:100633333:G:A
                              Gene:
                              TFR2 (Varview), LOC124901709 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1476342623 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:100621076 (GRCh38)
                                7:100218699 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:100621075:G:A
                                Gene:
                                TFR2 (Varview), LOC124901709 (Varview)
                                Functional Consequence:
                                synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                HGVS:
                                16.

                                rs1475726777 has merged into rs80338888 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTGGGCCACGGC>-,CTGGGCCACGGCCTGGGCCACGGC [Show Flanks]
                                  Chromosome:
                                  7:100627399 (GRCh38)
                                  7:100225022 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:100627386:CTGGGCCACGGCCTGGGCCACGGC:CTGGGCCACGGC,NC_000007.14:100627386:CTGGGCCACGGCCTGGGCCACGGC:CTGGGCCACGGCCTGGGCCACGGCCTGGGCCACGGC
                                  Gene:
                                  TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
                                  Functional Consequence:
                                  inframe_deletion,intron_variant,coding_sequence_variant,2KB_upstream_variant,inframe_insertion,upstream_transcript_variant
                                  Clinical significance:
                                  pathogenic,not-provided
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CTGGGCCACGGCCTGGGCCACGGCCTGGGCCACGGC=0./0 (ALFA)
                                  -=0.00004/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1475010711 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:100631875 (GRCh38)
                                    7:100229498 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:100631874:A:G
                                    Gene:
                                    TFR2 (Varview), LOC124901709 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_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:
                                    18.

                                    rs1474802769 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      7:100641213 (GRCh38)
                                      7:100238836 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:100641212:T:C
                                      Gene:
                                      TFR2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1473691916 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:100631929 (GRCh38)
                                        7:100229552 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:100631928:C:T
                                        Gene:
                                        TFR2 (Varview), LOC124901709 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1473059340 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:100627378 (GRCh38)
                                          7:100225001 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:100627377:C:T
                                          Gene:
                                          TFR2 (Varview), LOC124901709 (Varview), LOC124901710 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          T=0.000026/7 (TOPMED)
                                          HGVS:

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