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Links from Protein

Items: 1 to 20 of 489

1.

rs1487519949 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:34647554 (GRCh38)
    9:34647551 (GRCh37)
    Canonical SPDI:
    NC_000009.12:34647553:T:C
    Gene:
    GALT (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000012/3 (GnomAD_exomes)
    HGVS:
    2.

    rs1483461355 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:34648362 (GRCh38)
      9:34648359 (GRCh37)
      Canonical SPDI:
      NC_000009.12:34648361:T:C
      Gene:
      GALT (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      likely-pathogenic
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000051/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1483409336 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:34649521 (GRCh38)
        9:34649518 (GRCh37)
        Canonical SPDI:
        NC_000009.12:34649520:A:G
        Gene:
        GALT (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1482410758 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          9:34647195 (GRCh38)
          9:34647192 (GRCh37)
          Canonical SPDI:
          NC_000009.12:34647194:G:T
          Gene:
          GALT (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1476090243 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            9:34649544 (GRCh38)
            9:34649541 (GRCh37)
            Canonical SPDI:
            NC_000009.12:34649543:A:C
            Gene:
            GALT (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1473851511 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:34648142 (GRCh38)
              9:34648139 (GRCh37)
              Canonical SPDI:
              NC_000009.12:34648141:G:A
              Gene:
              GALT (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1470273008 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                9:34648339 (GRCh38)
                9:34648336 (GRCh37)
                Canonical SPDI:
                NC_000009.12:34648338:G:C
                Gene:
                GALT (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1469998825 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  9:34646723 (GRCh38)
                  9:34646720 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:34646722:G:T
                  Gene:
                  GALT (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,missense_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1467465307 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:34650374 (GRCh38)
                    9:34650371 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:34650373:A:G
                    Gene:
                    GALT (Varview), IL11RA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1457909546 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:34649416 (GRCh38)
                      9:34649413 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:34649415:C:T
                      Gene:
                      GALT (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      11.

                      rs1453548821 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:34649081 (GRCh38)
                        9:34649078 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:34649080:G:A
                        Gene:
                        GALT (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000047/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1450493685 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:34647127 (GRCh38)
                          9:34647124 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:34647126:T:C
                          Gene:
                          GALT (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1449037143 has merged into rs398123179 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAC>- [Show Flanks]
                            Chromosome:
                            9:34647528 (GRCh38)
                            9:34647525 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:34647525:ACAAC:AC
                            Gene:
                            GALT (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,inframe_deletion
                            Clinical significance:
                            pathogenic,likely-pathogenic
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AC=0./0 (ALFA)
                            -=0.000008/1 (ExAC)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1448701207 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:34648861 (GRCh38)
                              9:34648858 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:34648860:C:T
                              Gene:
                              GALT (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.00009/4 (ALFA)
                              T=0.000012/3 (GnomAD_exomes)
                              T=0.000014/2 (GnomAD)
                              T=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1442155934 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:34647893 (GRCh38)
                                9:34647890 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:34647892:A:G
                                Gene:
                                GALT (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1433331378 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AC>- [Show Flanks]
                                  Chromosome:
                                  9:34649496 (GRCh38)
                                  9:34649493 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:34649494:CAC:C
                                  Gene:
                                  GALT (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1432869852 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:34650426 (GRCh38)
                                    9:34650423 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:34650425:A:G
                                    Gene:
                                    GALT (Varview), IL11RA (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000111/1 (ALFA)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1427375817 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      9:34650410 (GRCh38)
                                      9:34650407 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:34650409:C:A
                                      Gene:
                                      GALT (Varview), IL11RA (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1426479143 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:34647175 (GRCh38)
                                        9:34647172 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:34647174:G:A
                                        Gene:
                                        GALT (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1426199841 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:34649422 (GRCh38)
                                          9:34649419 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:34649421:G:A
                                          Gene:
                                          GALT (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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