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Items: 1 to 20 of 435

1.

rs1488410118 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:62690426 (GRCh38)
    11:62457898 (GRCh37)
    Canonical SPDI:
    NC_000011.10:62690425:C:T
    Gene:
    BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1479808453 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:62692727 (GRCh38)
      11:62460199 (GRCh37)
      Canonical SPDI:
      NC_000011.10:62692726:A:G
      Gene:
      BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1479802364 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:62692693 (GRCh38)
        11:62460165 (GRCh37)
        Canonical SPDI:
        NC_000011.10:62692692:C:T
        Gene:
        BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1478630954 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:62705377 (GRCh38)
          11:62472849 (GRCh37)
          Canonical SPDI:
          NC_000011.10:62705376:C:T
          Gene:
          GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1473465067 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:62690443 (GRCh38)
            11:62457915 (GRCh37)
            Canonical SPDI:
            NC_000011.10:62690442:G:A
            Gene:
            BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00002/5 (GnomAD_exomes)
            A=0.000083/22 (TOPMED)
            A=0.0001/14 (GnomAD)
            HGVS:
            6.

            rs1472757944 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:62705349 (GRCh38)
              11:62472821 (GRCh37)
              Canonical SPDI:
              NC_000011.10:62705348:G:A
              Gene:
              GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000066/1 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              A=0.000223/1 (Estonian)
              HGVS:
              7.

              rs1471285147 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:62705316 (GRCh38)
                11:62472788 (GRCh37)
                Canonical SPDI:
                NC_000011.10:62705315:A:G
                Gene:
                GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1471053490 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:62705410 (GRCh38)
                  11:62472882 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:62705409:A:G
                  Gene:
                  GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1470975752 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    11:62691338 (GRCh38)
                    11:62458810 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:62691337:A:C
                    Gene:
                    BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1470904478 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:62694667 (GRCh38)
                      11:62462139 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:62694666:C:T
                      Gene:
                      BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1470617367 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        11:62691321 (GRCh38)
                        11:62458793 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:62691320:C:A
                        Gene:
                        BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1468142891 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          11:62691396 (GRCh38)
                          11:62458868 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:62691395:T:A
                          Gene:
                          BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1468015193 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:62705462 (GRCh38)
                            11:62472934 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:62705461:G:A
                            Gene:
                            GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.0003/1 (KOREAN)
                            HGVS:
                            14.

                            rs1467129976 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:62691347 (GRCh38)
                              11:62458819 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:62691346:A:G
                              Gene:
                              BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1459362408 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:62705403 (GRCh38)
                                11:62472875 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:62705402:G:C
                                Gene:
                                GNG3 (Varview), BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1458232816 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:62690787 (GRCh38)
                                  11:62458259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:62690786:C:T
                                  Gene:
                                  BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1452054909 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:62691342 (GRCh38)
                                    11:62458814 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:62691341:G:A
                                    Gene:
                                    BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1452035866 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      11:62691110 (GRCh38)
                                      11:62458582 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:62691109:T:A
                                      Gene:
                                      BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1450251165 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C,G [Show Flanks]
                                        Chromosome:
                                        11:62690479 (GRCh38)
                                        11:62457951 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:62690478:T:A,NC_000011.10:62690478:T:C,NC_000011.10:62690478:T:G
                                        Gene:
                                        BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        G=0.002729/5 (Korea1K)
                                        HGVS:
                                        NC_000011.10:g.62690479T>A, NC_000011.10:g.62690479T>C, NC_000011.10:g.62690479T>G, NC_000011.9:g.62457951T>A, NC_000011.9:g.62457951T>C, NC_000011.9:g.62457951T>G, NG_008461.1:g.24096A>T, NG_008461.1:g.24096A>G, NG_008461.1:g.24096A>C, NM_032667.6:c.1085A>T, NM_032667.6:c.1085A>G, NM_032667.6:c.1085A>C, NM_001122955.4:c.1277A>T, NM_001122955.4:c.1277A>G, NM_001122955.4:c.1277A>C, NM_001122955.3:c.1277A>T, NM_001122955.3:c.1277A>G, NM_001122955.3:c.1277A>C, NM_001130702.2:c.*79A>T, NM_001130702.2:c.*79A>G, NM_001130702.2:c.*79A>C, NM_001386027.1:c.1283A>T, NM_001386027.1:c.1283A>G, NM_001386027.1:c.1283A>C, NM_001386028.1:c.1277A>T, NM_001386028.1:c.1277A>G, NM_001386028.1:c.1277A>C, NG_033077.1:g.4421A>T, NG_033077.1:g.4421A>G, NG_033077.1:g.4421A>C, NR_037946.1:n.3797A>T, NR_037946.1:n.3797A>G, NR_037946.1:n.3797A>C, NR_037949.1:n.1885A>T, NR_037949.1:n.1885A>G, NR_037949.1:n.1885A>C, NR_037948.1:n.1879A>T, NR_037948.1:n.1879A>G, NR_037948.1:n.1879A>C, NP_116056.3:p.Asn362Ile, NP_116056.3:p.Asn362Ser, NP_116056.3:p.Asn362Thr, NP_001116427.1:p.Asn426Ile, NP_001116427.1:p.Asn426Ser, NP_001116427.1:p.Asn426Thr, NP_001372956.1:p.Asn428Ile, NP_001372956.1:p.Asn428Ser, NP_001372956.1:p.Asn428Thr, NP_001372957.1:p.Asn426Ile, NP_001372957.1:p.Asn426Ser, NP_001372957.1:p.Asn426Thr
                                        20.

                                        rs1444410995 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          11:62691316 (GRCh38)
                                          11:62458788 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:62691315:C:A,NC_000011.10:62691315:C:G,NC_000011.10:62691315:C:T
                                          Gene:
                                          BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
                                          Functional Consequence:
                                          intron_variant,stop_gained,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.62691316C>A, NC_000011.10:g.62691316C>G, NC_000011.10:g.62691316C>T, NC_000011.9:g.62458788C>A, NC_000011.9:g.62458788C>G, NC_000011.9:g.62458788C>T, NG_008461.1:g.23259G>T, NG_008461.1:g.23259G>C, NG_008461.1:g.23259G>A, NM_032667.6:c.777G>T, NM_032667.6:c.777G>C, NM_032667.6:c.777G>A, NM_001122955.4:c.969G>T, NM_001122955.4:c.969G>C, NM_001122955.4:c.969G>A, NM_001122955.3:c.969G>T, NM_001122955.3:c.969G>C, NM_001122955.3:c.969G>A, NM_001386027.1:c.969G>T, NM_001386027.1:c.969G>C, NM_001386027.1:c.969G>A, NM_001386028.1:c.969G>T, NM_001386028.1:c.969G>C, NM_001386028.1:c.969G>A, NG_033077.1:g.3584G>T, NG_033077.1:g.3584G>C, NG_033077.1:g.3584G>A, NR_037946.1:n.3489G>T, NR_037946.1:n.3489G>C, NR_037946.1:n.3489G>A, NR_037949.1:n.1571G>T, NR_037949.1:n.1571G>C, NR_037949.1:n.1571G>A, NR_037948.1:n.1571G>T, NR_037948.1:n.1571G>C, NR_037948.1:n.1571G>A, NP_116056.3:p.Trp259Cys, NP_116056.3:p.Trp259Cys, NP_116056.3:p.Trp259Ter, NP_001116427.1:p.Trp323Cys, NP_001116427.1:p.Trp323Cys, NP_001116427.1:p.Trp323Ter, NP_001372956.1:p.Trp323Cys, NP_001372956.1:p.Trp323Cys, NP_001372956.1:p.Trp323Ter, NP_001372957.1:p.Trp323Cys, NP_001372957.1:p.Trp323Cys, NP_001372957.1:p.Trp323Ter

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