U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 330

1.

rs1487864640 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:228147527 (GRCh38)
    1:228335228 (GRCh37)
    Canonical SPDI:
    NC_000001.11:228147526:C:T
    Gene:
    GUK1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000001.11:g.228147527C>T, NC_000001.10:g.228335228C>T, NG_011838.1:g.2676C>T, NM_000858.7:c.373C>T, NM_000858.6:c.373C>T, NM_000858.5:c.373C>T, XM_005273104.6:c.571C>T, XM_005273104.5:c.571C>T, XM_005273104.4:c.571C>T, XM_005273104.3:c.571C>T, XM_005273104.2:c.571C>T, XM_005273104.1:c.571C>T, NM_001159391.3:c.373C>T, NM_001159391.2:c.373C>T, NM_001159391.1:c.373C>T, NM_001242840.3:c.436C>T, NM_001242840.2:c.436C>T, NM_001242840.1:c.436C>T, NM_001159390.2:c.436C>T, NM_001159390.1:c.436C>T, XM_047418686.1:c.571C>T, XM_047418688.1:c.571C>T, XM_047418696.1:c.427C>T, XM_047418690.1:c.427C>T, XM_047418687.1:c.571C>T, XM_047418691.1:c.427C>T, XM_047418693.1:c.373C>T, NM_001242839.1:c.373C>T, XM_047418694.1:c.373C>T, NP_000849.1:p.Pro125Ser, XP_005273161.1:p.Pro191Ser, NP_001152863.1:p.Pro125Ser, NP_001229769.1:p.Pro146Ser, NP_001152862.1:p.Pro146Ser, XP_047274642.1:p.Pro191Ser, XP_047274644.1:p.Pro191Ser, XP_047274652.1:p.Pro143Ser, XP_047274646.1:p.Pro143Ser, XP_047274643.1:p.Pro191Ser, XP_047274647.1:p.Pro143Ser, XP_047274649.1:p.Pro125Ser, NP_001229768.1:p.Pro125Ser, XP_047274650.1:p.Pro125Ser

    2.

    rs1484019483 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      1:228148846 (GRCh38)
      1:228336547 (GRCh37)
      Canonical SPDI:
      NC_000001.11:228148845:G:T
      Gene:
      GUK1 (Varview), GJC2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000447/2 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000446/2 (Estonian)
      HGVS:

      3.

      rs1483778324 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        1:228147436 (GRCh38)
        1:228335137 (GRCh37)
        Canonical SPDI:
        NC_000001.11:228147435:G:T
        Gene:
        GUK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.228147436G>T, NC_000001.10:g.228335137G>T, NG_011838.1:g.2585G>T, NM_000858.7:c.282G>T, NM_000858.6:c.282G>T, NM_000858.5:c.282G>T, XM_005273104.6:c.480G>T, XM_005273104.5:c.480G>T, XM_005273104.4:c.480G>T, XM_005273104.3:c.480G>T, XM_005273104.2:c.480G>T, XM_005273104.1:c.480G>T, NM_001159391.3:c.282G>T, NM_001159391.2:c.282G>T, NM_001159391.1:c.282G>T, NM_001242840.3:c.345G>T, NM_001242840.2:c.345G>T, NM_001242840.1:c.345G>T, NM_001159390.2:c.345G>T, NM_001159390.1:c.345G>T, XM_047418686.1:c.480G>T, XM_047418688.1:c.480G>T, XM_047418696.1:c.336G>T, XM_047418690.1:c.336G>T, XM_047418687.1:c.480G>T, XM_047418691.1:c.336G>T, XM_047418693.1:c.282G>T, NM_001242839.1:c.282G>T, XM_047418694.1:c.282G>T, NP_000849.1:p.Met94Ile, XP_005273161.1:p.Met160Ile, NP_001152863.1:p.Met94Ile, NP_001229769.1:p.Met115Ile, NP_001152862.1:p.Met115Ile, XP_047274642.1:p.Met160Ile, XP_047274644.1:p.Met160Ile, XP_047274652.1:p.Met112Ile, XP_047274646.1:p.Met112Ile, XP_047274643.1:p.Met160Ile, XP_047274647.1:p.Met112Ile, XP_047274649.1:p.Met94Ile, NP_001229768.1:p.Met94Ile, XP_047274650.1:p.Met94Ile

        4.

        rs1481852230 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:228145579 (GRCh38)
          1:228333280 (GRCh37)
          Canonical SPDI:
          NC_000001.11:228145578:A:G
          Gene:
          GUK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000001.11:g.228145579A>G, NC_000001.10:g.228333280A>G, NG_011838.1:g.728A>G, NM_000858.7:c.67A>G, NM_000858.6:c.67A>G, NM_000858.5:c.67A>G, XM_005273104.6:c.265A>G, XM_005273104.5:c.265A>G, XM_005273104.4:c.265A>G, XM_005273104.3:c.265A>G, XM_005273104.2:c.265A>G, XM_005273104.1:c.265A>G, NM_001159391.3:c.67A>G, NM_001159391.2:c.67A>G, NM_001159391.1:c.67A>G, NM_001242840.3:c.130A>G, NM_001242840.2:c.130A>G, NM_001242840.1:c.130A>G, NM_001159390.2:c.130A>G, NM_001159390.1:c.130A>G, XM_047418686.1:c.265A>G, XM_047418688.1:c.265A>G, XM_047418696.1:c.140A>G, XM_047418690.1:c.140A>G, XM_047418687.1:c.265A>G, XM_047418691.1:c.140A>G, XM_047418693.1:c.67A>G, NM_001242839.1:c.67A>G, XM_047418694.1:c.67A>G, NP_000849.1:p.Arg23Gly, XP_005273161.1:p.Arg89Gly, NP_001152863.1:p.Arg23Gly, NP_001229769.1:p.Arg44Gly, NP_001152862.1:p.Arg44Gly, XP_047274642.1:p.Arg89Gly, XP_047274644.1:p.Arg89Gly, XP_047274652.1:p.Glu47Gly, XP_047274646.1:p.Glu47Gly, XP_047274643.1:p.Arg89Gly, XP_047274647.1:p.Glu47Gly, XP_047274649.1:p.Arg23Gly, NP_001229768.1:p.Arg23Gly, XP_047274650.1:p.Arg23Gly

          5.

          rs1478512810 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            1:228146905 (GRCh38)
            1:228334606 (GRCh37)
            Canonical SPDI:
            NC_000001.11:228146904:A:
            Gene:
            GUK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.228146905del, NC_000001.10:g.228334606del, NG_011838.1:g.2054del, NM_000858.7:c.218del, NM_000858.6:c.218del, NM_000858.5:c.218del, XM_005273104.6:c.416del, XM_005273104.5:c.416del, XM_005273104.4:c.416del, XM_005273104.3:c.416del, XM_005273104.2:c.416del, XM_005273104.1:c.416del, NM_001159391.3:c.218del, NM_001159391.2:c.218del, NM_001159391.1:c.218del, NM_001242840.3:c.281del, NM_001242840.2:c.281del, NM_001242840.1:c.281del, NM_001159390.2:c.281del, NM_001159390.1:c.281del, XM_047418686.1:c.416del, XM_047418688.1:c.416del, XM_047418696.1:c.272del, XM_047418690.1:c.272del, XM_047418687.1:c.416del, XM_047418691.1:c.272del, XM_047418693.1:c.218del, NM_001242839.1:c.218del, XM_047418694.1:c.218del, NP_000849.1:p.His73fs, XP_005273161.1:p.His139fs, NP_001152863.1:p.His73fs, NP_001229769.1:p.His94fs, NP_001152862.1:p.His94fs, XP_047274642.1:p.His139fs, XP_047274644.1:p.His139fs, XP_047274652.1:p.His91fs, XP_047274646.1:p.His91fs, XP_047274643.1:p.His139fs, XP_047274647.1:p.His91fs, XP_047274649.1:p.His73fs, NP_001229768.1:p.His73fs, XP_047274650.1:p.His73fs

            6.

            rs1476291165 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              1:228148756 (GRCh38)
              1:228336458 (GRCh37)
              Canonical SPDI:
              NC_000001.11:228148756:CC:CCC
              Gene:
              GUK1 (Varview), GJC2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCC=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.228148758dup, NC_000001.10:g.228336459dup, NG_011838.1:g.3907dup, NM_000858.7:c.*61dup, NM_000858.6:c.*61dup, NM_000858.5:c.*61dup, XM_005273104.6:c.*61dup, XM_005273104.5:c.*61dup, XM_005273104.4:c.*61dup, XM_005273104.3:c.*61dup, XM_005273104.2:c.*61dup, XM_005273104.1:c.*61dup, NM_001159391.3:c.*61dup, NM_001159391.2:c.*61dup, NM_001159391.1:c.*61dup, NM_001242840.3:c.632dup, NM_001242840.2:c.632dup, NM_001242840.1:c.632dup, NM_001159390.2:c.*61dup, NM_001159390.1:c.*61dup, XM_047418686.1:c.767dup, XM_047418688.1:c.*61dup, XM_047418696.1:c.*61dup, XM_047418690.1:c.623dup, XM_047418687.1:c.767dup, XM_047418691.1:c.623dup, XM_047418693.1:c.569dup, NM_001242839.1:c.*61dup, XM_047418694.1:c.569dup, NP_001229769.1:p.Pro212fs, XP_047274642.1:p.Pro257fs, XP_047274646.1:p.Pro209fs, XP_047274643.1:p.Pro257fs, XP_047274647.1:p.Pro209fs, XP_047274649.1:p.Pro191fs, XP_047274650.1:p.Pro191fs

              7.

              rs1473208284 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:228145587 (GRCh38)
                1:228333288 (GRCh37)
                Canonical SPDI:
                NC_000001.11:228145586:C:A
                Gene:
                GUK1 (Varview)
                Functional Consequence:
                synonymous_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1468080222 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:228146039 (GRCh38)
                  1:228333740 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:228146038:C:A
                  Gene:
                  GUK1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.228146039C>A, NC_000001.10:g.228333740C>A, NG_011838.1:g.1188C>A, NM_000858.7:c.126C>A, NM_000858.6:c.126C>A, NM_000858.5:c.126C>A, XM_005273104.6:c.324C>A, XM_005273104.5:c.324C>A, XM_005273104.4:c.324C>A, XM_005273104.3:c.324C>A, XM_005273104.2:c.324C>A, XM_005273104.1:c.324C>A, NM_001159391.3:c.126C>A, NM_001159391.2:c.126C>A, NM_001159391.1:c.126C>A, NM_001242840.3:c.189C>A, NM_001242840.2:c.189C>A, NM_001242840.1:c.189C>A, NM_001159390.2:c.189C>A, NM_001159390.1:c.189C>A, XM_047418686.1:c.324C>A, XM_047418688.1:c.324C>A, XM_047418696.1:c.199C>A, XM_047418690.1:c.199C>A, XM_047418687.1:c.324C>A, XM_047418691.1:c.199C>A, XM_047418693.1:c.126C>A, NM_001242839.1:c.126C>A, XM_047418694.1:c.126C>A, NP_000849.1:p.Asn42Lys, XP_005273161.1:p.Asn108Lys, NP_001152863.1:p.Asn42Lys, NP_001229769.1:p.Asn63Lys, NP_001152862.1:p.Asn63Lys, XP_047274642.1:p.Asn108Lys, XP_047274644.1:p.Asn108Lys, XP_047274652.1:p.Pro67Thr, XP_047274646.1:p.Pro67Thr, XP_047274643.1:p.Asn108Lys, XP_047274647.1:p.Pro67Thr, XP_047274649.1:p.Asn42Lys, NP_001229768.1:p.Asn42Lys, XP_047274650.1:p.Asn42Lys

                  9.

                  rs1467136710 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:228147489 (GRCh38)
                    1:228335190 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:228147488:C:T
                    Gene:
                    GUK1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.228147489C>T, NC_000001.10:g.228335190C>T, NG_011838.1:g.2638C>T, NM_000858.7:c.335C>T, NM_000858.6:c.335C>T, NM_000858.5:c.335C>T, XM_005273104.6:c.533C>T, XM_005273104.5:c.533C>T, XM_005273104.4:c.533C>T, XM_005273104.3:c.533C>T, XM_005273104.2:c.533C>T, XM_005273104.1:c.533C>T, NM_001159391.3:c.335C>T, NM_001159391.2:c.335C>T, NM_001159391.1:c.335C>T, NM_001242840.3:c.398C>T, NM_001242840.2:c.398C>T, NM_001242840.1:c.398C>T, NM_001159390.2:c.398C>T, NM_001159390.1:c.398C>T, XM_047418686.1:c.533C>T, XM_047418688.1:c.533C>T, XM_047418696.1:c.389C>T, XM_047418690.1:c.389C>T, XM_047418687.1:c.533C>T, XM_047418691.1:c.389C>T, XM_047418693.1:c.335C>T, NM_001242839.1:c.335C>T, XM_047418694.1:c.335C>T, NP_000849.1:p.Ala112Val, XP_005273161.1:p.Ala178Val, NP_001152863.1:p.Ala112Val, NP_001229769.1:p.Ala133Val, NP_001152862.1:p.Ala133Val, XP_047274642.1:p.Ala178Val, XP_047274644.1:p.Ala178Val, XP_047274652.1:p.Ala130Val, XP_047274646.1:p.Ala130Val, XP_047274643.1:p.Ala178Val, XP_047274647.1:p.Ala130Val, XP_047274649.1:p.Ala112Val, NP_001229768.1:p.Ala112Val, XP_047274650.1:p.Ala112Val

                    10.

                    rs1466767596 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      1:228145574 (GRCh38)
                      1:228333275 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:228145573:T:A
                      Gene:
                      GUK1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.228145574T>A, NC_000001.10:g.228333275T>A, NG_011838.1:g.723T>A, NM_000858.7:c.62T>A, NM_000858.6:c.62T>A, NM_000858.5:c.62T>A, XM_005273104.6:c.260T>A, XM_005273104.5:c.260T>A, XM_005273104.4:c.260T>A, XM_005273104.3:c.260T>A, XM_005273104.2:c.260T>A, XM_005273104.1:c.260T>A, NM_001159391.3:c.62T>A, NM_001159391.2:c.62T>A, NM_001159391.1:c.62T>A, NM_001242840.3:c.125T>A, NM_001242840.2:c.125T>A, NM_001242840.1:c.125T>A, NM_001159390.2:c.125T>A, NM_001159390.1:c.125T>A, XM_047418686.1:c.260T>A, XM_047418688.1:c.260T>A, XM_047418696.1:c.135T>A, XM_047418690.1:c.135T>A, XM_047418687.1:c.260T>A, XM_047418691.1:c.135T>A, XM_047418693.1:c.62T>A, NM_001242839.1:c.62T>A, XM_047418694.1:c.62T>A, NP_000849.1:p.Leu21Gln, XP_005273161.1:p.Leu87Gln, NP_001152863.1:p.Leu21Gln, NP_001229769.1:p.Leu42Gln, NP_001152862.1:p.Leu42Gln, XP_047274642.1:p.Leu87Gln, XP_047274644.1:p.Leu87Gln, XP_047274643.1:p.Leu87Gln, XP_047274649.1:p.Leu21Gln, NP_001229768.1:p.Leu21Gln, XP_047274650.1:p.Leu21Gln

                      11.

                      rs1466039535 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        1:228146928 (GRCh38)
                        1:228334629 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:228146927:T:A
                        Gene:
                        GUK1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.228146928T>A, NC_000001.10:g.228334629T>A, NG_011838.1:g.2077T>A, NM_000858.7:c.241T>A, NM_000858.6:c.241T>A, NM_000858.5:c.241T>A, XM_005273104.6:c.439T>A, XM_005273104.5:c.439T>A, XM_005273104.4:c.439T>A, XM_005273104.3:c.439T>A, XM_005273104.2:c.439T>A, XM_005273104.1:c.439T>A, NM_001159391.3:c.241T>A, NM_001159391.2:c.241T>A, NM_001159391.1:c.241T>A, NM_001242840.3:c.304T>A, NM_001242840.2:c.304T>A, NM_001242840.1:c.304T>A, NM_001159390.2:c.304T>A, NM_001159390.1:c.304T>A, XM_047418686.1:c.439T>A, XM_047418688.1:c.439T>A, XM_047418696.1:c.295T>A, XM_047418690.1:c.295T>A, XM_047418687.1:c.439T>A, XM_047418691.1:c.295T>A, XM_047418693.1:c.241T>A, NM_001242839.1:c.241T>A, XM_047418694.1:c.241T>A, NP_000849.1:p.Tyr81Asn, XP_005273161.1:p.Tyr147Asn, NP_001152863.1:p.Tyr81Asn, NP_001229769.1:p.Tyr102Asn, NP_001152862.1:p.Tyr102Asn, XP_047274642.1:p.Tyr147Asn, XP_047274644.1:p.Tyr147Asn, XP_047274652.1:p.Tyr99Asn, XP_047274646.1:p.Tyr99Asn, XP_047274643.1:p.Tyr147Asn, XP_047274647.1:p.Tyr99Asn, XP_047274649.1:p.Tyr81Asn, NP_001229768.1:p.Tyr81Asn, XP_047274650.1:p.Tyr81Asn

                        12.

                        rs1465103706 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:228148844 (GRCh38)
                          1:228336545 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:228148843:C:G
                          Gene:
                          GUK1 (Varview), GJC2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.228148844C>G, NC_000001.10:g.228336545C>G, NG_011838.1:g.3993C>G, NM_000858.7:c.*147C>G, NM_000858.6:c.*147C>G, NM_000858.5:c.*147C>G, XM_005273104.6:c.*147C>G, XM_005273104.5:c.*147C>G, XM_005273104.4:c.*147C>G, XM_005273104.3:c.*147C>G, XM_005273104.2:c.*147C>G, XM_005273104.1:c.*147C>G, NM_001159391.3:c.*147C>G, NM_001159391.2:c.*147C>G, NM_001159391.1:c.*147C>G, NM_001242840.3:c.718C>G, NM_001242840.2:c.718C>G, NM_001242840.1:c.718C>G, NM_001159390.2:c.*147C>G, NM_001159390.1:c.*147C>G, XM_047418686.1:c.853C>G, XM_047418688.1:c.*147C>G, XM_047418696.1:c.*147C>G, XM_047418690.1:c.709C>G, XM_047418687.1:c.853C>G, XM_047418691.1:c.709C>G, XM_047418693.1:c.655C>G, NM_001242839.1:c.*147C>G, XM_047418694.1:c.655C>G, NP_001229769.1:p.Leu240Val, XP_047274642.1:p.Leu285Val, XP_047274646.1:p.Leu237Val, XP_047274643.1:p.Leu285Val, XP_047274647.1:p.Leu237Val, XP_047274649.1:p.Leu219Val, XP_047274650.1:p.Leu219Val

                          13.

                          rs1460330861 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:228145537 (GRCh38)
                            1:228333238 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:228145536:C:T
                            Gene:
                            GUK1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1459435065 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:228147519 (GRCh38)
                              1:228335220 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:228147518:T:C
                              Gene:
                              GUK1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000026/7 (TOPMED)
                              C=0.000029/4 (GnomAD)
                              HGVS:
                              NC_000001.11:g.228147519T>C, NC_000001.10:g.228335220T>C, NG_011838.1:g.2668T>C, NM_000858.7:c.365T>C, NM_000858.6:c.365T>C, NM_000858.5:c.365T>C, XM_005273104.6:c.563T>C, XM_005273104.5:c.563T>C, XM_005273104.4:c.563T>C, XM_005273104.3:c.563T>C, XM_005273104.2:c.563T>C, XM_005273104.1:c.563T>C, NM_001159391.3:c.365T>C, NM_001159391.2:c.365T>C, NM_001159391.1:c.365T>C, NM_001242840.3:c.428T>C, NM_001242840.2:c.428T>C, NM_001242840.1:c.428T>C, NM_001159390.2:c.428T>C, NM_001159390.1:c.428T>C, XM_047418686.1:c.563T>C, XM_047418688.1:c.563T>C, XM_047418696.1:c.419T>C, XM_047418690.1:c.419T>C, XM_047418687.1:c.563T>C, XM_047418691.1:c.419T>C, XM_047418693.1:c.365T>C, NM_001242839.1:c.365T>C, XM_047418694.1:c.365T>C, NP_000849.1:p.Val122Ala, XP_005273161.1:p.Val188Ala, NP_001152863.1:p.Val122Ala, NP_001229769.1:p.Val143Ala, NP_001152862.1:p.Val143Ala, XP_047274642.1:p.Val188Ala, XP_047274644.1:p.Val188Ala, XP_047274652.1:p.Val140Ala, XP_047274646.1:p.Val140Ala, XP_047274643.1:p.Val188Ala, XP_047274647.1:p.Val140Ala, XP_047274649.1:p.Val122Ala, NP_001229768.1:p.Val122Ala, XP_047274650.1:p.Val122Ala

                              15.

                              rs1459087766 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:228145582 (GRCh38)
                                1:228333283 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:228145581:C:T
                                Gene:
                                GUK1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1458780840 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:228140115 (GRCh38)
                                  1:228327816 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:228140114:G:T
                                  Gene:
                                  GUK1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1457541400 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:228148380 (GRCh38)
                                    1:228336081 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:228148379:C:T
                                    Gene:
                                    GUK1 (Varview), GJC2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1455831331 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      1:228147676 (GRCh38)
                                      1:228335377 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:228147675:C:A,NC_000001.11:228147675:C:T
                                      Gene:
                                      GUK1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.228147676C>A, NC_000001.11:g.228147676C>T, NC_000001.10:g.228335377C>A, NC_000001.10:g.228335377C>T, NG_011838.1:g.2825C>A, NG_011838.1:g.2825C>T, NM_000858.7:c.452C>A, NM_000858.7:c.452C>T, NM_000858.6:c.452C>A, NM_000858.6:c.452C>T, NM_000858.5:c.452C>A, NM_000858.5:c.452C>T, XM_005273104.6:c.650C>A, XM_005273104.6:c.650C>T, XM_005273104.5:c.650C>A, XM_005273104.5:c.650C>T, XM_005273104.4:c.650C>A, XM_005273104.4:c.650C>T, XM_005273104.3:c.650C>A, XM_005273104.3:c.650C>T, XM_005273104.2:c.650C>A, XM_005273104.2:c.650C>T, XM_005273104.1:c.650C>A, XM_005273104.1:c.650C>T, NM_001159391.3:c.452C>A, NM_001159391.3:c.452C>T, NM_001159391.2:c.452C>A, NM_001159391.2:c.452C>T, NM_001159391.1:c.452C>A, NM_001159391.1:c.452C>T, NM_001242840.3:c.515C>A, NM_001242840.3:c.515C>T, NM_001242840.2:c.515C>A, NM_001242840.2:c.515C>T, NM_001242840.1:c.515C>A, NM_001242840.1:c.515C>T, NM_001159390.2:c.515C>A, NM_001159390.2:c.515C>T, NM_001159390.1:c.515C>A, NM_001159390.1:c.515C>T, XM_047418686.1:c.650C>A, XM_047418686.1:c.650C>T, XM_047418688.1:c.650C>A, XM_047418688.1:c.650C>T, XM_047418696.1:c.506C>A, XM_047418696.1:c.506C>T, XM_047418690.1:c.506C>A, XM_047418690.1:c.506C>T, XM_047418687.1:c.650C>A, XM_047418687.1:c.650C>T, XM_047418691.1:c.506C>A, XM_047418691.1:c.506C>T, XM_047418693.1:c.452C>A, XM_047418693.1:c.452C>T, NM_001242839.1:c.452C>A, NM_001242839.1:c.452C>T, XM_047418694.1:c.452C>A, XM_047418694.1:c.452C>T, NP_000849.1:p.Ala151Asp, NP_000849.1:p.Ala151Val, XP_005273161.1:p.Ala217Asp, XP_005273161.1:p.Ala217Val, NP_001152863.1:p.Ala151Asp, NP_001152863.1:p.Ala151Val, NP_001229769.1:p.Ala172Asp, NP_001229769.1:p.Ala172Val, NP_001152862.1:p.Ala172Asp, NP_001152862.1:p.Ala172Val, XP_047274642.1:p.Ala217Asp, XP_047274642.1:p.Ala217Val, XP_047274644.1:p.Ala217Asp, XP_047274644.1:p.Ala217Val, XP_047274652.1:p.Ala169Asp, XP_047274652.1:p.Ala169Val, XP_047274646.1:p.Ala169Asp, XP_047274646.1:p.Ala169Val, XP_047274643.1:p.Ala217Asp, XP_047274643.1:p.Ala217Val, XP_047274647.1:p.Ala169Asp, XP_047274647.1:p.Ala169Val, XP_047274649.1:p.Ala151Asp, XP_047274649.1:p.Ala151Val, NP_001229768.1:p.Ala151Asp, NP_001229768.1:p.Ala151Val, XP_047274650.1:p.Ala151Asp, XP_047274650.1:p.Ala151Val

                                      19.

                                      rs1454406373 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:228148833 (GRCh38)
                                        1:228336534 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:228148832:G:A
                                        Gene:
                                        GUK1 (Varview), GJC2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        A=0.000055/9 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.228148833G>A, NC_000001.10:g.228336534G>A, NG_011838.1:g.3982G>A, NM_000858.7:c.*136G>A, NM_000858.6:c.*136G>A, NM_000858.5:c.*136G>A, XM_005273104.6:c.*136G>A, XM_005273104.5:c.*136G>A, XM_005273104.4:c.*136G>A, XM_005273104.3:c.*136G>A, XM_005273104.2:c.*136G>A, XM_005273104.1:c.*136G>A, NM_001159391.3:c.*136G>A, NM_001159391.2:c.*136G>A, NM_001159391.1:c.*136G>A, NM_001242840.3:c.707G>A, NM_001242840.2:c.707G>A, NM_001242840.1:c.707G>A, NM_001159390.2:c.*136G>A, NM_001159390.1:c.*136G>A, XM_047418686.1:c.842G>A, XM_047418688.1:c.*136G>A, XM_047418696.1:c.*136G>A, XM_047418690.1:c.698G>A, XM_047418687.1:c.842G>A, XM_047418691.1:c.698G>A, XM_047418693.1:c.644G>A, NM_001242839.1:c.*136G>A, XM_047418694.1:c.644G>A, NP_001229769.1:p.Gly236Asp, XP_047274642.1:p.Gly281Asp, XP_047274646.1:p.Gly233Asp, XP_047274643.1:p.Gly281Asp, XP_047274647.1:p.Gly233Asp, XP_047274649.1:p.Gly215Asp, XP_047274650.1:p.Gly215Asp

                                        20.

                                        rs1442491586 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:228140107 (GRCh38)
                                          1:228327808 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:228140106:C:G
                                          Gene:
                                          GUK1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...