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Links from Protein

Items: 1 to 20 of 162

1.

rs1489554514 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    X:15659093 (GRCh38)
    X:15677216 (GRCh37)
    Canonical SPDI:
    NC_000023.11:15659092:C:A
    Gene:
    CLTRN (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000011/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1487165781 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:15628022 (GRCh38)
      X:15646145 (GRCh37)
      Canonical SPDI:
      NC_000023.11:15628021:C:T
      Gene:
      CLTRN (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      HGVS:
      4.

      rs1477455320 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:15628116 (GRCh38)
        X:15646239 (GRCh37)
        Canonical SPDI:
        NC_000023.11:15628115:T:C
        Gene:
        CLTRN (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000142/2 (ALFA)
        C=0.00003/8 (TOPMED)
        C=0.000058/6 (GnomAD)
        ...more
        HGVS:
        5.

        rs1476053577 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          X:15664345 (GRCh38)
          X:15682468 (GRCh37)
          Canonical SPDI:
          NC_000023.11:15664344:C:G
          Gene:
          CLTRN (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD_exomes)
          G=0.000011/3 (TOPMED)
          G=0.000019/2 (GnomAD)
          ...more
          HGVS:
          6.

          rs1472112145 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            X:15639704 (GRCh38)
            X:15657827 (GRCh37)
            Canonical SPDI:
            NC_000023.11:15639703:C:A
            Gene:
            CLTRN (Varview)
            Functional Consequence:
            stop_gained,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000111/1 (ALFA)
            A=0.000006/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1469865619 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:15639739 (GRCh38)
              X:15657862 (GRCh37)
              Canonical SPDI:
              NC_000023.11:15639738:A:G
              Gene:
              CLTRN (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.00001/1 (GnomAD)
              ...more
              HGVS:
              8.

              rs1468901288 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:15628056 (GRCh38)
                X:15646179 (GRCh37)
                Canonical SPDI:
                NC_000023.11:15628055:C:T
                Gene:
                CLTRN (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.00001/1 (GnomAD)
                ...more
                HGVS:
                9.

                rs1468597959 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:15639667 (GRCh38)
                  X:15657790 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:15639666:A:G
                  Gene:
                  CLTRN (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000005/1 (GnomAD_exomes)
                  G=0.00001/1 (GnomAD)
                  ...more
                  HGVS:
                  10.

                  rs1465163736 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    X:15664378 (GRCh38)
                    X:15682501 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:15664377:T:A
                    Gene:
                    CLTRN (Varview)
                    Functional Consequence:
                    stop_gained,5_prime_UTR_variant,coding_sequence_variant
                    HGVS:
                    11.

                    rs1457231980 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:15628095 (GRCh38)
                      X:15646218 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:15628094:G:A
                      Gene:
                      CLTRN (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.00001/1 (GnomAD)
                      ...more
                      HGVS:
                      12.

                      rs1456852184 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:15639610 (GRCh38)
                        X:15657733 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:15639609:A:G
                        Gene:
                        CLTRN (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        13.
                        14.

                        rs1455336267 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:15664361 (GRCh38)
                          X:15682484 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:15664360:G:A
                          Gene:
                          CLTRN (Varview)
                          Functional Consequence:
                          synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                          HGVS:
                          15.

                          rs1447958928 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            X:15659032 (GRCh38)
                            X:15677155 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:15659031:T:C
                            Gene:
                            CLTRN (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            16.

                            rs1444887017 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:15664729 (GRCh38)
                              X:15682852 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:15664728:A:G
                              Gene:
                              CLTRN (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              HGVS:
                              17.

                              rs1435868426 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:15639716 (GRCh38)
                                X:15657839 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:15639715:C:T
                                Gene:
                                CLTRN (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000006/1 (GnomAD_exomes)
                                T=0.00001/1 (GnomAD)
                                ...more
                                HGVS:
                                18.

                                rs1421905961 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  X:15639658 (GRCh38)
                                  X:15657781 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:15639657:G:T
                                  Gene:
                                  CLTRN (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  19.

                                  rs1414988605 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:15639708 (GRCh38)
                                    X:15657831 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:15639707:A:G
                                    Gene:
                                    CLTRN (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1414524718 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:15628125 (GRCh38)
                                      X:15646248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:15628124:T:C
                                      Gene:
                                      CLTRN (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000009/1 (GnomAD_exomes)
                                      HGVS:

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