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Items: 1 to 20 of 257

1.

rs1484791801 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:150941666 (GRCh38)
    3:150659453 (GRCh37)
    Canonical SPDI:
    NC_000003.12:150941665:C:T
    Gene:
    CLRN1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000028/1 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1484564291 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:150972488 (GRCh38)
      3:150690275 (GRCh37)
      Canonical SPDI:
      NC_000003.12:150972487:C:T
      Gene:
      CLRN1 (Varview), CLRN1-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1478816321 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:150941667 (GRCh38)
        3:150659454 (GRCh37)
        Canonical SPDI:
        NC_000003.12:150941666:T:C
        Gene:
        CLRN1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1477604963 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          3:150972607 (GRCh38)
          3:150690394 (GRCh37)
          Canonical SPDI:
          NC_000003.12:150972606:G:A,NC_000003.12:150972606:G:C
          Gene:
          CLRN1 (Varview), CLRN1-AS1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1476228884 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:150972459 (GRCh38)
            3:150690246 (GRCh37)
            Canonical SPDI:
            NC_000003.12:150972458:A:G
            Gene:
            CLRN1 (Varview), CLRN1-AS1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1468512060 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:150972586 (GRCh38)
              3:150690373 (GRCh37)
              Canonical SPDI:
              NC_000003.12:150972585:T:G
              Gene:
              CLRN1 (Varview), CLRN1-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1468254069 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:150941741 (GRCh38)
                3:150659528 (GRCh37)
                Canonical SPDI:
                NC_000003.12:150941740:C:T
                Gene:
                CLRN1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1463432252 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  3:150941757 (GRCh38)
                  3:150659544 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:150941756:A:C
                  Gene:
                  CLRN1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1463067573 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:150972560 (GRCh38)
                    3:150690347 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:150972559:G:A
                    Gene:
                    CLRN1 (Varview), CLRN1-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1459945227 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:150972646 (GRCh38)
                      3:150690433 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:150972645:G:A
                      Gene:
                      CLRN1 (Varview), CLRN1-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1458226293 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:150941688 (GRCh38)
                        3:150659475 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:150941687:A:G
                        Gene:
                        CLRN1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1453828746 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:150928081 (GRCh38)
                          3:150645868 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:150928080:T:C
                          Gene:
                          CLRN1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1452780065 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:150972562 (GRCh38)
                            3:150690349 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:150972561:G:A
                            Gene:
                            CLRN1 (Varview), CLRN1-AS1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            15.

                            rs1451244765 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:150972676 (GRCh38)
                              3:150690463 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:150972675:G:A
                              Gene:
                              CLRN1 (Varview), CLRN1-AS1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              16.

                              rs1443434247 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                3:150972642 (GRCh38)
                                3:150690429 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:150972641:C:A,NC_000003.12:150972641:C:T
                                Gene:
                                CLRN1 (Varview), CLRN1-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,stop_gained
                                Clinical significance:
                                pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                17.

                                rs1438911994 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:150972533 (GRCh38)
                                  3:150690320 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:150972532:C:T
                                  Gene:
                                  CLRN1 (Varview), CLRN1-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1436871124 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:150972627 (GRCh38)
                                    3:150690414 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:150972626:A:G
                                    Gene:
                                    CLRN1 (Varview), CLRN1-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1434038761 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:150928150 (GRCh38)
                                      3:150645937 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:150928149:T:C
                                      Gene:
                                      CLRN1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000047/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      20.

                                      rs1426351570 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:150941672 (GRCh38)
                                        3:150659459 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:150941671:C:T
                                        Gene:
                                        CLRN1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:

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