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 Protein

Items: 1 to 20 of 1425

1.

rs1490884156 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTCCTCGTGGCCAAGGCGGAGGAGGAGCAGGCTGGCAGCGC>- [Show Flanks]
    Chromosome:
    19:1077932 (GRCh38)
    19:1077931 (GRCh37)
    Canonical SPDI:
    NC_000019.10:1077928:CGCTTCCTCGTGGCCAAGGCGGAGGAGGAGCAGGCTGGCAGCGC:CGC
    Gene:
    ARHGAP45 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    CGC=0./0 (ALFA)
    -=0.000026/7 (TOPMED)
    HGVS:
    NC_000019.10:g.1077932_1077972del, NC_000019.9:g.1077931_1077971del, NM_012292.5:c.1261_1301del, NM_012292.4:c.1261_1301del, NM_012292.3:c.1261_1301del, NM_001258328.4:c.1309_1349del, NM_001258328.3:c.1309_1349del, NM_001258328.2:c.1309_1349del, NM_001258328.1:c.1309_1349del, NM_001282335.3:c.910_950del, NM_001282335.2:c.910_950del, NM_001282335.1:c.910_950del, NM_001321232.2:c.1273_1313del, NM_001321232.1:c.1273_1313del, NM_001282334.2:c.166_206del, NM_001282334.1:c.166_206del, XM_047438547.1:c.1273_1313del, XM_047438546.1:c.1261_1301del, XM_047438548.1:c.1261_1301del, XM_047438545.1:c.1309_1349del, XM_011527858.1:c.1273_1313del, NR_047652.1:n.1299_1339del, XM_047438549.1:c.232_272del, NP_036424.2:p.Phe421fs, NP_001245257.1:p.Phe437fs, NP_001269264.1:p.Phe304fs, NP_001308161.1:p.Phe425fs, NP_001269263.1:p.Phe56fs, XP_047294503.1:p.Phe425fs, XP_047294502.1:p.Phe421fs, XP_047294504.1:p.Phe421fs, XP_047294501.1:p.Phe437fs, XP_011526160.1:p.Phe425fs, XP_047294505.1:p.Phe78fs

    2.

    rs1490656722 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:1079770 (GRCh38)
      19:1079769 (GRCh37)
      Canonical SPDI:
      NC_000019.10:1079769:A:G
      Gene:
      ARHGAP45 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.1079770A>G, NC_000019.9:g.1079769A>G, NM_012292.5:c.1442A>G, NM_012292.4:c.1442A>G, NM_012292.3:c.1442A>G, NM_001258328.4:c.1490A>G, NM_001258328.3:c.1490A>G, NM_001258328.2:c.1490A>G, NM_001258328.1:c.1490A>G, NM_001282335.3:c.1091A>G, NM_001282335.2:c.1091A>G, NM_001282335.1:c.1091A>G, NM_001321232.2:c.1454A>G, NM_001321232.1:c.1454A>G, NM_001282334.2:c.347A>G, NM_001282334.1:c.347A>G, XM_047438547.1:c.1454A>G, XM_047438546.1:c.1442A>G, XM_047438548.1:c.1442A>G, XM_047438545.1:c.1490A>G, XM_011527858.1:c.1454A>G, NR_047652.1:n.1480A>G, XM_047438549.1:c.413A>G, NP_036424.2:p.Glu481Gly, NP_001245257.1:p.Glu497Gly, NP_001269264.1:p.Glu364Gly, NP_001308161.1:p.Glu485Gly, NP_001269263.1:p.Glu116Gly, XP_047294503.1:p.Glu485Gly, XP_047294502.1:p.Glu481Gly, XP_047294504.1:p.Glu481Gly, XP_047294501.1:p.Glu497Gly, XP_011526160.1:p.Glu485Gly, XP_047294505.1:p.Glu138Gly

      3.

      rs1490632990 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:1080351 (GRCh38)
        19:1080350 (GRCh37)
        Canonical SPDI:
        NC_000019.10:1080350:T:C
        Gene:
        ARHGAP45 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000045/2 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000014/2 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:

        4.

        rs1490168181 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:1078007 (GRCh38)
          19:1078006 (GRCh37)
          Canonical SPDI:
          NC_000019.10:1078006:G:A
          Gene:
          ARHGAP45 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          HGVS:
          NC_000019.10:g.1078007G>A, NC_000019.9:g.1078006G>A, NM_012292.5:c.1336G>A, NM_012292.4:c.1336G>A, NM_012292.3:c.1336G>A, NM_001258328.4:c.1384G>A, NM_001258328.3:c.1384G>A, NM_001258328.2:c.1384G>A, NM_001258328.1:c.1384G>A, NM_001282335.3:c.985G>A, NM_001282335.2:c.985G>A, NM_001282335.1:c.985G>A, NM_001321232.2:c.1348G>A, NM_001321232.1:c.1348G>A, NM_001282334.2:c.241G>A, NM_001282334.1:c.241G>A, XM_047438547.1:c.1348G>A, XM_047438546.1:c.1336G>A, XM_047438548.1:c.1336G>A, XM_047438545.1:c.1384G>A, XM_011527858.1:c.1348G>A, NR_047652.1:n.1374G>A, XM_047438549.1:c.307G>A, NP_036424.2:p.Asp446Asn, NP_001245257.1:p.Asp462Asn, NP_001269264.1:p.Asp329Asn, NP_001308161.1:p.Asp450Asn, NP_001269263.1:p.Asp81Asn, XP_047294503.1:p.Asp450Asn, XP_047294502.1:p.Asp446Asn, XP_047294504.1:p.Asp446Asn, XP_047294501.1:p.Asp462Asn, XP_011526160.1:p.Asp450Asn, XP_047294505.1:p.Asp103Asn

          5.

          rs1489725541 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            19:1068461 (GRCh38)
            19:1068460 (GRCh37)
            Canonical SPDI:
            NC_000019.10:1068460:C:A,NC_000019.10:1068460:C:T
            Gene:
            ARHGAP45 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000019.10:g.1068461C>A, NC_000019.10:g.1068461C>T, NC_000019.9:g.1068460C>A, NC_000019.9:g.1068460C>T, NM_012292.5:c.138C>A, NM_012292.5:c.138C>T, NM_012292.4:c.138C>A, NM_012292.4:c.138C>T, NM_012292.3:c.138C>A, NM_012292.3:c.138C>T, NM_001258328.4:c.186C>A, NM_001258328.4:c.186C>T, NM_001258328.3:c.186C>A, NM_001258328.3:c.186C>T, NM_001258328.2:c.186C>A, NM_001258328.2:c.186C>T, NM_001258328.1:c.186C>A, NM_001258328.1:c.186C>T, NM_001321232.2:c.150C>A, NM_001321232.2:c.150C>T, NM_001321232.1:c.150C>A, NM_001321232.1:c.150C>T, XM_047438547.1:c.150C>A, XM_047438547.1:c.150C>T, XM_047438546.1:c.138C>A, XM_047438546.1:c.138C>T, XM_047438548.1:c.138C>A, XM_047438548.1:c.138C>T, XM_047438545.1:c.186C>A, XM_047438545.1:c.186C>T, XM_011527858.1:c.150C>A, XM_011527858.1:c.150C>T, NP_036424.2:p.Ser46Arg, NP_001245257.1:p.Ser62Arg, NP_001308161.1:p.Ser50Arg, XP_047294503.1:p.Ser50Arg, XP_047294502.1:p.Ser46Arg, XP_047294504.1:p.Ser46Arg, XP_047294501.1:p.Ser62Arg, XP_011526160.1:p.Ser50Arg

            6.

            rs1489653774 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:1084343 (GRCh38)
              19:1084342 (GRCh37)
              Canonical SPDI:
              NC_000019.10:1084342:A:G
              Gene:
              ARHGAP45 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.1084343A>G, NC_000019.9:g.1084342A>G, NM_012292.5:c.3061A>G, NM_012292.4:c.3061A>G, NM_012292.3:c.3061A>G, NM_001258328.4:c.3109A>G, NM_001258328.3:c.3109A>G, NM_001258328.2:c.3109A>G, NM_001258328.1:c.3109A>G, NM_001282335.3:c.2710A>G, NM_001282335.2:c.2710A>G, NM_001282335.1:c.2710A>G, NM_001321232.2:c.3073A>G, NM_001321232.1:c.3073A>G, NM_001282334.2:c.1966A>G, NM_001282334.1:c.1966A>G, XM_047438547.1:c.3073A>G, XM_047438546.1:c.3145A>G, XM_047438548.1:c.3061A>G, XM_047438545.1:c.3193A>G, XM_011527858.1:c.3157A>G, NR_047652.1:n.3099A>G, XM_047438549.1:c.2032A>G, NP_036424.2:p.Arg1021Gly, NP_001245257.1:p.Arg1037Gly, NP_001269264.1:p.Arg904Gly, NP_001308161.1:p.Arg1025Gly, NP_001269263.1:p.Arg656Gly, XP_047294503.1:p.Arg1025Gly, XP_047294502.1:p.Arg1049Gly, XP_047294504.1:p.Arg1021Gly, XP_047294501.1:p.Arg1065Gly, XP_011526160.1:p.Arg1053Gly, XP_047294505.1:p.Arg678Gly

              7.

              rs1488271886 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:1085841 (GRCh38)
                19:1085840 (GRCh37)
                Canonical SPDI:
                NC_000019.10:1085840:C:T
                Gene:
                ARHGAP45 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1487319617 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  19:1080372 (GRCh38)
                  19:1080371 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:1080371:C:A,NC_000019.10:1080371:C:T
                  Gene:
                  ARHGAP45 (Varview)
                  Functional Consequence:
                  synonymous_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000019.10:g.1080372C>A, NC_000019.10:g.1080372C>T, NC_000019.9:g.1080371C>A, NC_000019.9:g.1080371C>T, NM_012292.5:c.1821C>A, NM_012292.5:c.1821C>T, NM_012292.4:c.1821C>A, NM_012292.4:c.1821C>T, NM_012292.3:c.1821C>A, NM_012292.3:c.1821C>T, NM_001258328.4:c.1869C>A, NM_001258328.4:c.1869C>T, NM_001258328.3:c.1869C>A, NM_001258328.3:c.1869C>T, NM_001258328.2:c.1869C>A, NM_001258328.2:c.1869C>T, NM_001258328.1:c.1869C>A, NM_001258328.1:c.1869C>T, NM_001282335.3:c.1470C>A, NM_001282335.3:c.1470C>T, NM_001282335.2:c.1470C>A, NM_001282335.2:c.1470C>T, NM_001282335.1:c.1470C>A, NM_001282335.1:c.1470C>T, NM_001321232.2:c.1833C>A, NM_001321232.2:c.1833C>T, NM_001321232.1:c.1833C>A, NM_001321232.1:c.1833C>T, NM_001282334.2:c.726C>A, NM_001282334.2:c.726C>T, NM_001282334.1:c.726C>A, NM_001282334.1:c.726C>T, XM_047438547.1:c.1833C>A, XM_047438547.1:c.1833C>T, XM_047438546.1:c.1821C>A, XM_047438546.1:c.1821C>T, XM_047438548.1:c.1821C>A, XM_047438548.1:c.1821C>T, XM_047438545.1:c.1869C>A, XM_047438545.1:c.1869C>T, XM_011527858.1:c.1833C>A, XM_011527858.1:c.1833C>T, NR_047652.1:n.1859C>A, NR_047652.1:n.1859C>T, XM_047438549.1:c.792C>A, XM_047438549.1:c.792C>T, NP_036424.2:p.Asp607Glu, NP_001245257.1:p.Asp623Glu, NP_001269264.1:p.Asp490Glu, NP_001308161.1:p.Asp611Glu, NP_001269263.1:p.Asp242Glu, XP_047294503.1:p.Asp611Glu, XP_047294502.1:p.Asp607Glu, XP_047294504.1:p.Asp607Glu, XP_047294501.1:p.Asp623Glu, XP_011526160.1:p.Asp611Glu, XP_047294505.1:p.Asp264Glu

                  9.

                  rs1486290751 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:1085770 (GRCh38)
                    19:1085769 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:1085769:C:T
                    Gene:
                    ARHGAP45 (Varview)
                    Functional Consequence:
                    stop_gained,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000019.10:g.1085770C>T, NC_000019.9:g.1085769C>T, NM_012292.5:c.3175C>T, NM_012292.4:c.3175C>T, NM_012292.3:c.3175C>T, NM_001258328.4:c.3223C>T, NM_001258328.3:c.3223C>T, NM_001258328.2:c.3223C>T, NM_001258328.1:c.3223C>T, NM_001282335.3:c.2824C>T, NM_001282335.2:c.2824C>T, NM_001282335.1:c.2824C>T, NM_001321232.2:c.3187C>T, NM_001321232.1:c.3187C>T, NM_001282334.2:c.2080C>T, NM_001282334.1:c.2080C>T, XM_047438547.1:c.3187C>T, XM_047438546.1:c.3259C>T, XM_047438548.1:c.3175C>T, XM_047438545.1:c.3307C>T, XM_011527858.1:c.3271C>T, NR_047652.1:n.3213C>T, XM_047438549.1:c.2146C>T, NP_036424.2:p.Gln1059Ter, NP_001245257.1:p.Gln1075Ter, NP_001269264.1:p.Gln942Ter, NP_001308161.1:p.Gln1063Ter, NP_001269263.1:p.Gln694Ter, XP_047294503.1:p.Gln1063Ter, XP_047294502.1:p.Gln1087Ter, XP_047294504.1:p.Gln1059Ter, XP_047294501.1:p.Gln1103Ter, XP_011526160.1:p.Gln1091Ter, XP_047294505.1:p.Gln716Ter

                    10.

                    rs1486246999 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:1068687 (GRCh38)
                      19:1068686 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:1068686:G:A
                      Gene:
                      ARHGAP45 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1485468895 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:1085839 (GRCh38)
                        19:1085838 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:1085838:G:A
                        Gene:
                        ARHGAP45 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        NC_000019.10:g.1085839G>A, NC_000019.9:g.1085838G>A, NM_012292.5:c.3244G>A, NM_012292.4:c.3244G>A, NM_012292.3:c.3244G>A, NM_001258328.4:c.3292G>A, NM_001258328.3:c.3292G>A, NM_001258328.2:c.3292G>A, NM_001258328.1:c.3292G>A, NM_001282335.3:c.2893G>A, NM_001282335.2:c.2893G>A, NM_001282335.1:c.2893G>A, NM_001321232.2:c.3256G>A, NM_001321232.1:c.3256G>A, NM_001282334.2:c.2149G>A, NM_001282334.1:c.2149G>A, XM_047438547.1:c.3256G>A, XM_047438546.1:c.3328G>A, XM_047438548.1:c.3244G>A, XM_047438545.1:c.3376G>A, XM_011527858.1:c.3340G>A, NR_047652.1:n.3282G>A, XM_047438549.1:c.2215G>A, NP_036424.2:p.Ala1082Thr, NP_001245257.1:p.Ala1098Thr, NP_001269264.1:p.Ala965Thr, NP_001308161.1:p.Ala1086Thr, NP_001269263.1:p.Ala717Thr, XP_047294503.1:p.Ala1086Thr, XP_047294502.1:p.Ala1110Thr, XP_047294504.1:p.Ala1082Thr, XP_047294501.1:p.Ala1126Thr, XP_011526160.1:p.Ala1114Thr, XP_047294505.1:p.Ala739Thr

                        12.

                        rs1485426929 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          19:1083253 (GRCh38)
                          19:1083252 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:1083252:C:A,NC_000019.10:1083252:C:T
                          Gene:
                          ARHGAP45 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.0001/1 (ALFA)
                          HGVS:
                          NC_000019.10:g.1083253C>A, NC_000019.10:g.1083253C>T, NC_000019.9:g.1083252C>A, NC_000019.9:g.1083252C>T, NM_012292.5:c.2855C>A, NM_012292.5:c.2855C>T, NM_012292.4:c.2855C>A, NM_012292.4:c.2855C>T, NM_012292.3:c.2855C>A, NM_012292.3:c.2855C>T, NM_001258328.4:c.2903C>A, NM_001258328.4:c.2903C>T, NM_001258328.3:c.2903C>A, NM_001258328.3:c.2903C>T, NM_001258328.2:c.2903C>A, NM_001258328.2:c.2903C>T, NM_001258328.1:c.2903C>A, NM_001258328.1:c.2903C>T, NM_001282335.3:c.2504C>A, NM_001282335.3:c.2504C>T, NM_001282335.2:c.2504C>A, NM_001282335.2:c.2504C>T, NM_001282335.1:c.2504C>A, NM_001282335.1:c.2504C>T, NM_001321232.2:c.2867C>A, NM_001321232.2:c.2867C>T, NM_001321232.1:c.2867C>A, NM_001321232.1:c.2867C>T, NM_001282334.2:c.1760C>A, NM_001282334.2:c.1760C>T, NM_001282334.1:c.1760C>A, NM_001282334.1:c.1760C>T, XM_047438547.1:c.2867C>A, XM_047438547.1:c.2867C>T, XM_047438546.1:c.2939C>A, XM_047438546.1:c.2939C>T, XM_047438548.1:c.2855C>A, XM_047438548.1:c.2855C>T, XM_047438545.1:c.2987C>A, XM_047438545.1:c.2987C>T, XM_011527858.1:c.2951C>A, XM_011527858.1:c.2951C>T, NR_047652.1:n.2893C>A, NR_047652.1:n.2893C>T, XM_047438549.1:c.1826C>A, XM_047438549.1:c.1826C>T, NP_036424.2:p.Ser952Tyr, NP_036424.2:p.Ser952Phe, NP_001245257.1:p.Ser968Tyr, NP_001245257.1:p.Ser968Phe, NP_001269264.1:p.Ser835Tyr, NP_001269264.1:p.Ser835Phe, NP_001308161.1:p.Ser956Tyr, NP_001308161.1:p.Ser956Phe, NP_001269263.1:p.Ser587Tyr, NP_001269263.1:p.Ser587Phe, XP_047294503.1:p.Ser956Tyr, XP_047294503.1:p.Ser956Phe, XP_047294502.1:p.Ser980Tyr, XP_047294502.1:p.Ser980Phe, XP_047294504.1:p.Ser952Tyr, XP_047294504.1:p.Ser952Phe, XP_047294501.1:p.Ser996Tyr, XP_047294501.1:p.Ser996Phe, XP_011526160.1:p.Ser984Tyr, XP_011526160.1:p.Ser984Phe, XP_047294505.1:p.Ser609Tyr, XP_047294505.1:p.Ser609Phe

                          13.

                          rs1484310865 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:1074008 (GRCh38)
                            19:1074007 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:1074007:G:A
                            Gene:
                            ARHGAP45 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1483031034 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              19:1080304 (GRCh38)
                              19:1080304 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:1080304::T
                              Gene:
                              ARHGAP45 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              HGVS:
                              NC_000019.10:g.1080304_1080305insT, NC_000019.9:g.1080303_1080304insT, NM_012292.5:c.1753_1754insT, NM_012292.4:c.1753_1754insT, NM_012292.3:c.1753_1754insT, NM_001258328.4:c.1801_1802insT, NM_001258328.3:c.1801_1802insT, NM_001258328.2:c.1801_1802insT, NM_001258328.1:c.1801_1802insT, NM_001282335.3:c.1402_1403insT, NM_001282335.2:c.1402_1403insT, NM_001282335.1:c.1402_1403insT, NM_001321232.2:c.1765_1766insT, NM_001321232.1:c.1765_1766insT, NM_001282334.2:c.658_659insT, NM_001282334.1:c.658_659insT, XM_047438547.1:c.1765_1766insT, XM_047438546.1:c.1753_1754insT, XM_047438548.1:c.1753_1754insT, XM_047438545.1:c.1801_1802insT, XM_011527858.1:c.1765_1766insT, NR_047652.1:n.1791_1792insT, XM_047438549.1:c.724_725insT, NP_036424.2:p.Ala585fs, NP_001245257.1:p.Ala601fs, NP_001269264.1:p.Ala468fs, NP_001308161.1:p.Ala589fs, NP_001269263.1:p.Ala220fs, XP_047294503.1:p.Ala589fs, XP_047294502.1:p.Ala585fs, XP_047294504.1:p.Ala585fs, XP_047294501.1:p.Ala601fs, XP_011526160.1:p.Ala589fs, XP_047294505.1:p.Ala242fs

                              15.

                              rs1482612233 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:1083270 (GRCh38)
                                19:1083269 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:1083269:C:T
                                Gene:
                                ARHGAP45 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000084/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.1083270C>T, NC_000019.9:g.1083269C>T, NM_012292.5:c.2872C>T, NM_012292.4:c.2872C>T, NM_012292.3:c.2872C>T, NM_001258328.4:c.2920C>T, NM_001258328.3:c.2920C>T, NM_001258328.2:c.2920C>T, NM_001258328.1:c.2920C>T, NM_001282335.3:c.2521C>T, NM_001282335.2:c.2521C>T, NM_001282335.1:c.2521C>T, NM_001321232.2:c.2884C>T, NM_001321232.1:c.2884C>T, NM_001282334.2:c.1777C>T, NM_001282334.1:c.1777C>T, XM_047438547.1:c.2884C>T, XM_047438546.1:c.2956C>T, XM_047438548.1:c.2872C>T, XM_047438545.1:c.3004C>T, XM_011527858.1:c.2968C>T, NR_047652.1:n.2910C>T, XM_047438549.1:c.1843C>T, NP_036424.2:p.His958Tyr, NP_001245257.1:p.His974Tyr, NP_001269264.1:p.His841Tyr, NP_001308161.1:p.His962Tyr, NP_001269263.1:p.His593Tyr, XP_047294503.1:p.His962Tyr, XP_047294502.1:p.His986Tyr, XP_047294504.1:p.His958Tyr, XP_047294501.1:p.His1002Tyr, XP_011526160.1:p.His990Tyr, XP_047294505.1:p.His615Tyr

                                16.

                                rs1482440148 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  19:1074233 (GRCh38)
                                  19:1074232 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:1074232:C:A,NC_000019.10:1074232:C:T
                                  Gene:
                                  ARHGAP45 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.00003/1 (ALFA)
                                  HGVS:
                                  NC_000019.10:g.1074233C>A, NC_000019.10:g.1074233C>T, NC_000019.9:g.1074232C>A, NC_000019.9:g.1074232C>T, NM_012292.5:c.920C>A, NM_012292.5:c.920C>T, NM_012292.4:c.920C>A, NM_012292.4:c.920C>T, NM_012292.3:c.920C>A, NM_012292.3:c.920C>T, NM_001258328.4:c.968C>A, NM_001258328.4:c.968C>T, NM_001258328.3:c.968C>A, NM_001258328.3:c.968C>T, NM_001258328.2:c.968C>A, NM_001258328.2:c.968C>T, NM_001258328.1:c.968C>A, NM_001258328.1:c.968C>T, NM_001282335.3:c.569C>A, NM_001282335.3:c.569C>T, NM_001282335.2:c.569C>A, NM_001282335.2:c.569C>T, NM_001282335.1:c.569C>A, NM_001282335.1:c.569C>T, NM_001321232.2:c.932C>A, NM_001321232.2:c.932C>T, NM_001321232.1:c.932C>A, NM_001321232.1:c.932C>T, XM_047438547.1:c.932C>A, XM_047438547.1:c.932C>T, XM_047438546.1:c.920C>A, XM_047438546.1:c.920C>T, XM_047438548.1:c.920C>A, XM_047438548.1:c.920C>T, XM_047438545.1:c.968C>A, XM_047438545.1:c.968C>T, XM_011527858.1:c.932C>A, XM_011527858.1:c.932C>T, NP_036424.2:p.Thr307Lys, NP_036424.2:p.Thr307Met, NP_001245257.1:p.Thr323Lys, NP_001245257.1:p.Thr323Met, NP_001269264.1:p.Thr190Lys, NP_001269264.1:p.Thr190Met, NP_001308161.1:p.Thr311Lys, NP_001308161.1:p.Thr311Met, XP_047294503.1:p.Thr311Lys, XP_047294503.1:p.Thr311Met, XP_047294502.1:p.Thr307Lys, XP_047294502.1:p.Thr307Met, XP_047294504.1:p.Thr307Lys, XP_047294504.1:p.Thr307Met, XP_047294501.1:p.Thr323Lys, XP_047294501.1:p.Thr323Met, XP_011526160.1:p.Thr311Lys, XP_011526160.1:p.Thr311Met

                                  17.

                                  rs1481803053 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    19:1068702 (GRCh38)
                                    19:1068701 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:1068701:G:A,NC_000019.10:1068701:G:T
                                    Gene:
                                    ARHGAP45 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000019.10:g.1068702G>A, NC_000019.10:g.1068702G>T, NC_000019.9:g.1068701G>A, NC_000019.9:g.1068701G>T, NM_012292.5:c.379G>A, NM_012292.5:c.379G>T, NM_012292.4:c.379G>A, NM_012292.4:c.379G>T, NM_012292.3:c.379G>A, NM_012292.3:c.379G>T, NM_001258328.4:c.427G>A, NM_001258328.4:c.427G>T, NM_001258328.3:c.427G>A, NM_001258328.3:c.427G>T, NM_001258328.2:c.427G>A, NM_001258328.2:c.427G>T, NM_001258328.1:c.427G>A, NM_001258328.1:c.427G>T, NM_001321232.2:c.391G>A, NM_001321232.2:c.391G>T, NM_001321232.1:c.391G>A, NM_001321232.1:c.391G>T, XM_047438547.1:c.391G>A, XM_047438547.1:c.391G>T, XM_047438546.1:c.379G>A, XM_047438546.1:c.379G>T, XM_047438548.1:c.379G>A, XM_047438548.1:c.379G>T, XM_047438545.1:c.427G>A, XM_047438545.1:c.427G>T, XM_011527858.1:c.391G>A, XM_011527858.1:c.391G>T, NP_036424.2:p.Ala127Thr, NP_036424.2:p.Ala127Ser, NP_001245257.1:p.Ala143Thr, NP_001245257.1:p.Ala143Ser, NP_001308161.1:p.Ala131Thr, NP_001308161.1:p.Ala131Ser, XP_047294503.1:p.Ala131Thr, XP_047294503.1:p.Ala131Ser, XP_047294502.1:p.Ala127Thr, XP_047294502.1:p.Ala127Ser, XP_047294504.1:p.Ala127Thr, XP_047294504.1:p.Ala127Ser, XP_047294501.1:p.Ala143Thr, XP_047294501.1:p.Ala143Ser, XP_011526160.1:p.Ala131Thr, XP_011526160.1:p.Ala131Ser

                                    18.

                                    rs1481565478 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:1080544 (GRCh38)
                                      19:1080543 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:1080543:G:A
                                      Gene:
                                      ARHGAP45 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.1080544G>A, NC_000019.9:g.1080543G>A, NM_012292.5:c.1909G>A, NM_012292.4:c.1909G>A, NM_012292.3:c.1909G>A, NM_001258328.4:c.1957G>A, NM_001258328.3:c.1957G>A, NM_001258328.2:c.1957G>A, NM_001258328.1:c.1957G>A, NM_001282335.3:c.1558G>A, NM_001282335.2:c.1558G>A, NM_001282335.1:c.1558G>A, NM_001321232.2:c.1921G>A, NM_001321232.1:c.1921G>A, NM_001282334.2:c.814G>A, NM_001282334.1:c.814G>A, XM_047438547.1:c.1921G>A, XM_047438546.1:c.1993G>A, XM_047438548.1:c.1909G>A, XM_047438545.1:c.2041G>A, XM_011527858.1:c.2005G>A, NR_047652.1:n.1947G>A, XM_047438549.1:c.880G>A, NP_036424.2:p.Ala637Thr, NP_001245257.1:p.Ala653Thr, NP_001269264.1:p.Ala520Thr, NP_001308161.1:p.Ala641Thr, NP_001269263.1:p.Ala272Thr, XP_047294503.1:p.Ala641Thr, XP_047294502.1:p.Ala665Thr, XP_047294504.1:p.Ala637Thr, XP_047294501.1:p.Ala681Thr, XP_011526160.1:p.Ala669Thr, XP_047294505.1:p.Ala294Thr

                                      19.

                                      rs1479333664 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:1083063 (GRCh38)
                                        19:1083062 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:1083062:G:A
                                        Gene:
                                        ARHGAP45 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.1083063G>A, NC_000019.9:g.1083062G>A, NM_012292.5:c.2741G>A, NM_012292.4:c.2741G>A, NM_012292.3:c.2741G>A, NM_001258328.4:c.2789G>A, NM_001258328.3:c.2789G>A, NM_001258328.2:c.2789G>A, NM_001258328.1:c.2789G>A, NM_001282335.3:c.2390G>A, NM_001282335.2:c.2390G>A, NM_001282335.1:c.2390G>A, NM_001321232.2:c.2753G>A, NM_001321232.1:c.2753G>A, NM_001282334.2:c.1646G>A, NM_001282334.1:c.1646G>A, XM_047438547.1:c.2753G>A, XM_047438546.1:c.2825G>A, XM_047438548.1:c.2741G>A, XM_047438545.1:c.2873G>A, XM_011527858.1:c.2837G>A, NR_047652.1:n.2779G>A, XM_047438549.1:c.1712G>A, NP_036424.2:p.Arg914His, NP_001245257.1:p.Arg930His, NP_001269264.1:p.Arg797His, NP_001308161.1:p.Arg918His, NP_001269263.1:p.Arg549His, XP_047294503.1:p.Arg918His, XP_047294502.1:p.Arg942His, XP_047294504.1:p.Arg914His, XP_047294501.1:p.Arg958His, XP_011526160.1:p.Arg946His, XP_047294505.1:p.Arg571His

                                        20.

                                        rs1478090855 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:1067442 (GRCh38)
                                          19:1067441 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:1067441:C:T
                                          Gene:
                                          ARHGAP45 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000224/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000223/1 (Estonian)
                                          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...