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Items: 1 to 20 of 2147

1.

rs1491457756 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    21:31119100 (GRCh38)
    21:32491418 (GRCh37)
    Canonical SPDI:
    NC_000021.9:31119099:CT:
    Gene:
    TIAM1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000008/1 (GnomAD)
    HGVS:

    2.

    rs1490194529 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      21:31251979 (GRCh38)
      21:32624295 (GRCh37)
      Canonical SPDI:
      NC_000021.9:31251978:C:T
      Gene:
      TIAM1 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000021.9:g.31251979C>T, NC_000021.8:g.32624295C>T, NM_003253.3:c.1174G>A, NM_003253.2:c.1174G>A, XM_005261040.3:c.1174G>A, XM_005261040.2:c.1174G>A, XM_005261040.1:c.1174G>A, NM_001353694.2:c.1174G>A, NM_001353694.1:c.1174G>A, NM_001353687.2:c.1174G>A, NM_001353687.1:c.1174G>A, NM_001353686.2:c.1174G>A, NM_001353686.1:c.1174G>A, NM_001353693.1:c.1174G>A, NM_001353688.1:c.1174G>A, XM_047440969.1:c.1174G>A, NM_001353691.1:c.1174G>A, NM_001353689.1:c.1174G>A, NM_001353690.1:c.1174G>A, NM_001353692.1:c.1174G>A, NP_003244.2:p.Glu392Lys, XP_005261097.1:p.Glu392Lys, NP_001340623.1:p.Glu392Lys, NP_001340616.1:p.Glu392Lys, NP_001340615.1:p.Glu392Lys, NP_001340622.1:p.Glu392Lys, NP_001340617.1:p.Glu392Lys, XP_047296925.1:p.Glu392Lys, NP_001340620.1:p.Glu392Lys, NP_001340618.1:p.Glu392Lys, NP_001340619.1:p.Glu392Lys, NP_001340621.1:p.Glu392Lys

      3.

      rs1489933967 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        21:31266939 (GRCh38)
        21:32639255 (GRCh37)
        Canonical SPDI:
        NC_000021.9:31266938:C:T
        Gene:
        TIAM1 (Varview)
        Functional Consequence:
        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1489832010 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          21:31187075 (GRCh38)
          21:32559391 (GRCh37)
          Canonical SPDI:
          NC_000021.9:31187074:G:T
          Gene:
          TIAM1 (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000021.9:g.31187075G>T, NC_000021.8:g.32559391G>T, NM_003253.3:c.2588C>A, NM_003253.2:c.2588C>A, XM_005261040.3:c.2588C>A, XM_005261040.2:c.2588C>A, XM_005261040.1:c.2588C>A, NM_001353694.2:c.2588C>A, NM_001353694.1:c.2588C>A, NM_001353687.2:c.2513C>A, NM_001353687.1:c.2513C>A, NM_001353686.2:c.2588C>A, NM_001353686.1:c.2588C>A, NM_001353693.1:c.2588C>A, NM_001353688.1:c.2588C>A, XM_047440969.1:c.2588C>A, NM_001353691.1:c.2588C>A, NM_001353689.1:c.2588C>A, NM_001353690.1:c.2588C>A, NM_001353692.1:c.2588C>A, NP_003244.2:p.Ser863Tyr, XP_005261097.1:p.Ser863Tyr, NP_001340623.1:p.Ser863Tyr, NP_001340616.1:p.Ser838Tyr, NP_001340615.1:p.Ser863Tyr, NP_001340622.1:p.Ser863Tyr, NP_001340617.1:p.Ser863Tyr, XP_047296925.1:p.Ser863Tyr, NP_001340620.1:p.Ser863Tyr, NP_001340618.1:p.Ser863Tyr, NP_001340619.1:p.Ser863Tyr, NP_001340621.1:p.Ser863Tyr

          5.

          rs1489364206 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            21:31266306 (GRCh38)
            21:32638622 (GRCh37)
            Canonical SPDI:
            NC_000021.9:31266305:G:A
            Gene:
            TIAM1 (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_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:
            NC_000021.9:g.31266306G>A, NC_000021.8:g.32638622G>A, NM_003253.3:c.667C>T, NM_003253.2:c.667C>T, XM_005261040.3:c.667C>T, XM_005261040.2:c.667C>T, XM_005261040.1:c.667C>T, NM_001353694.2:c.667C>T, NM_001353694.1:c.667C>T, NM_001353687.2:c.667C>T, NM_001353687.1:c.667C>T, NM_001353686.2:c.667C>T, NM_001353686.1:c.667C>T, NM_001353693.1:c.667C>T, NM_001353688.1:c.667C>T, XM_047440969.1:c.667C>T, NM_001353691.1:c.667C>T, NM_001353689.1:c.667C>T, NM_001353690.1:c.667C>T, NM_001353692.1:c.667C>T, NP_003244.2:p.Leu223Phe, XP_005261097.1:p.Leu223Phe, NP_001340623.1:p.Leu223Phe, NP_001340616.1:p.Leu223Phe, NP_001340615.1:p.Leu223Phe, NP_001340622.1:p.Leu223Phe, NP_001340617.1:p.Leu223Phe, XP_047296925.1:p.Leu223Phe, NP_001340620.1:p.Leu223Phe, NP_001340618.1:p.Leu223Phe, NP_001340619.1:p.Leu223Phe, NP_001340621.1:p.Leu223Phe

            6.

            rs1489279383 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              21:31120787 (GRCh38)
              21:32493105 (GRCh37)
              Canonical SPDI:
              NC_000021.9:31120786:T:A
              Gene:
              TIAM1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.31120787T>A, NC_000021.8:g.32493105T>A, NM_003253.3:c.4357A>T, NM_003253.2:c.4357A>T, XM_005261040.3:c.*58A>T, XM_005261040.2:c.*58A>T, XM_005261040.1:c.*58A>T, NM_001353694.2:c.4357A>T, NM_001353694.1:c.4357A>T, NM_001353687.2:c.4282A>T, NM_001353687.1:c.4282A>T, NM_001353686.2:c.4282A>T, NM_001353686.1:c.4282A>T, NM_001353684.2:c.1456A>T, NM_001353684.1:c.1456A>T, NM_001353685.2:c.1381A>T, NM_001353685.1:c.1381A>T, NM_001353693.1:c.4357A>T, NM_001353688.1:c.4357A>T, XM_047440969.1:c.4357A>T, NM_001353691.1:c.4357A>T, NM_001353689.1:c.4357A>T, NM_001353690.1:c.4357A>T, NM_001353692.1:c.4357A>T, NP_003244.2:p.Asn1453Tyr, NP_001340623.1:p.Asn1453Tyr, NP_001340616.1:p.Asn1428Tyr, NP_001340615.1:p.Asn1428Tyr, NP_001340613.1:p.Asn486Tyr, NP_001340614.1:p.Asn461Tyr, NP_001340622.1:p.Asn1453Tyr, NP_001340617.1:p.Asn1453Tyr, XP_047296925.1:p.Asn1453Tyr, NP_001340620.1:p.Asn1453Tyr, NP_001340618.1:p.Asn1453Tyr, NP_001340619.1:p.Asn1453Tyr, NP_001340621.1:p.Asn1453Tyr

              7.

              rs1488671181 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GC>- [Show Flanks]
                Chromosome:
                21:31559050 (GRCh38)
                21:32931363 (GRCh37)
                Canonical SPDI:
                NC_000021.9:31559047:GCGC:GC
                Gene:
                TIAM1 (Varview), TIAM1-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                GCGC=0./0 (ALFA)
                HGVS:

                8.

                rs1488012138 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  21:31251920 (GRCh38)
                  21:32624236 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:31251919:C:T
                  Gene:
                  TIAM1 (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1486536977 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:31251949 (GRCh38)
                    21:32624265 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:31251948:C:T
                    Gene:
                    TIAM1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000021.9:g.31251949C>T, NC_000021.8:g.32624265C>T, NM_003253.3:c.1204G>A, NM_003253.2:c.1204G>A, XM_005261040.3:c.1204G>A, XM_005261040.2:c.1204G>A, XM_005261040.1:c.1204G>A, NM_001353694.2:c.1204G>A, NM_001353694.1:c.1204G>A, NM_001353687.2:c.1204G>A, NM_001353687.1:c.1204G>A, NM_001353686.2:c.1204G>A, NM_001353686.1:c.1204G>A, NM_001353693.1:c.1204G>A, NM_001353688.1:c.1204G>A, XM_047440969.1:c.1204G>A, NM_001353691.1:c.1204G>A, NM_001353689.1:c.1204G>A, NM_001353690.1:c.1204G>A, NM_001353692.1:c.1204G>A, NP_003244.2:p.Glu402Lys, XP_005261097.1:p.Glu402Lys, NP_001340623.1:p.Glu402Lys, NP_001340616.1:p.Glu402Lys, NP_001340615.1:p.Glu402Lys, NP_001340622.1:p.Glu402Lys, NP_001340617.1:p.Glu402Lys, XP_047296925.1:p.Glu402Lys, NP_001340620.1:p.Glu402Lys, NP_001340618.1:p.Glu402Lys, NP_001340619.1:p.Glu402Lys, NP_001340621.1:p.Glu402Lys

                    10.

                    rs1486502323 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      21:31118472 (GRCh38)
                      21:32490790 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:31118471:C:A
                      Gene:
                      TIAM1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      HGVS:

                      11.

                      rs1486230140 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        21:31130916 (GRCh38)
                        21:32503234 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:31130915:C:T
                        Gene:
                        TIAM1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000021.9:g.31130916C>T, NC_000021.8:g.32503234C>T, NM_003253.3:c.3916G>A, NM_003253.2:c.3916G>A, XM_005261040.3:c.3916G>A, XM_005261040.2:c.3916G>A, XM_005261040.1:c.3916G>A, NM_001353694.2:c.3916G>A, NM_001353694.1:c.3916G>A, NM_001353687.2:c.3841G>A, NM_001353687.1:c.3841G>A, NM_001353686.2:c.3841G>A, NM_001353686.1:c.3841G>A, NM_001353684.2:c.1015G>A, NM_001353684.1:c.1015G>A, NM_001353685.2:c.940G>A, NM_001353685.1:c.940G>A, NM_001353693.1:c.3916G>A, NM_001353688.1:c.3916G>A, XM_047440969.1:c.3916G>A, NM_001353691.1:c.3916G>A, NM_001353689.1:c.3916G>A, NM_001353690.1:c.3916G>A, NM_001353692.1:c.3916G>A, NP_003244.2:p.Asp1306Asn, XP_005261097.1:p.Asp1306Asn, NP_001340623.1:p.Asp1306Asn, NP_001340616.1:p.Asp1281Asn, NP_001340615.1:p.Asp1281Asn, NP_001340613.1:p.Asp339Asn, NP_001340614.1:p.Asp314Asn, NP_001340622.1:p.Asp1306Asn, NP_001340617.1:p.Asp1306Asn, XP_047296925.1:p.Asp1306Asn, NP_001340620.1:p.Asp1306Asn, NP_001340618.1:p.Asp1306Asn, NP_001340619.1:p.Asp1306Asn, NP_001340621.1:p.Asp1306Asn

                        12.

                        rs1486144444 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          21:31339402 (GRCh38)
                          21:32711717 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:31339401:C:G
                          Gene:
                          TIAM1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.0002/1 (ALFA)
                          G=0.0002/1 (Estonian)
                          HGVS:

                          13.

                          rs1485519672 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            21:31119407 (GRCh38)
                            21:32491725 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:31119406:C:A,NC_000021.9:31119406:C:T
                            Gene:
                            TIAM1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000021.9:g.31119407C>A, NC_000021.9:g.31119407C>T, NC_000021.8:g.32491725C>A, NC_000021.8:g.32491725C>T, NM_003253.3:c.*961G>T, NM_003253.3:c.*961G>A, NM_003253.2:c.*961G>T, NM_003253.2:c.*961G>A, XM_005261040.3:c.*1438G>T, XM_005261040.3:c.*1438G>A, XM_005261040.2:c.*1438G>T, XM_005261040.2:c.*1438G>A, NM_001353694.2:c.*961G>T, NM_001353694.2:c.*961G>A, NM_001353694.1:c.*961G>T, NM_001353694.1:c.*961G>A, NM_001353687.2:c.*961G>T, NM_001353687.2:c.*961G>A, NM_001353687.1:c.*961G>T, NM_001353687.1:c.*961G>A, NM_001353686.2:c.*961G>T, NM_001353686.2:c.*961G>A, NM_001353686.1:c.*961G>T, NM_001353686.1:c.*961G>A, NM_001353684.2:c.*961G>T, NM_001353684.2:c.*961G>A, NM_001353684.1:c.*961G>T, NM_001353684.1:c.*961G>A, NM_001353685.2:c.*961G>T, NM_001353685.2:c.*961G>A, NM_001353685.1:c.*961G>T, NM_001353685.1:c.*961G>A, NM_001353693.1:c.*961G>T, NM_001353693.1:c.*961G>A, NM_001353688.1:c.*961G>T, NM_001353688.1:c.*961G>A, XM_047440969.1:c.*961G>T, XM_047440969.1:c.*961G>A, NM_001353691.1:c.*961G>T, NM_001353691.1:c.*961G>A, NM_001353689.1:c.*961G>T, NM_001353689.1:c.*961G>A, NM_001353690.1:c.*961G>T, NM_001353690.1:c.*961G>A, NM_001353692.1:c.*961G>T, NM_001353692.1:c.*961G>A

                            14.

                            rs1485410275 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              21:31195243 (GRCh38)
                              21:32567559 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:31195242:A:G
                              Gene:
                              TIAM1 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1485372749 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                21:31463976 (GRCh38)
                                21:32836289 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:31463975:T:G
                                Gene:
                                TIAM1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1484995340 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  21:31266268 (GRCh38)
                                  21:32638584 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:31266267:C:G
                                  Gene:
                                  TIAM1 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000447/2 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000446/2 (Estonian)
                                  HGVS:
                                  NC_000021.9:g.31266268C>G, NC_000021.8:g.32638584C>G, NM_003253.3:c.705G>C, NM_003253.2:c.705G>C, XM_005261040.3:c.705G>C, XM_005261040.2:c.705G>C, XM_005261040.1:c.705G>C, NM_001353694.2:c.705G>C, NM_001353694.1:c.705G>C, NM_001353687.2:c.705G>C, NM_001353687.1:c.705G>C, NM_001353686.2:c.705G>C, NM_001353686.1:c.705G>C, NM_001353693.1:c.705G>C, NM_001353688.1:c.705G>C, XM_047440969.1:c.705G>C, NM_001353691.1:c.705G>C, NM_001353689.1:c.705G>C, NM_001353690.1:c.705G>C, NM_001353692.1:c.705G>C, NP_003244.2:p.Leu235Phe, XP_005261097.1:p.Leu235Phe, NP_001340623.1:p.Leu235Phe, NP_001340616.1:p.Leu235Phe, NP_001340615.1:p.Leu235Phe, NP_001340622.1:p.Leu235Phe, NP_001340617.1:p.Leu235Phe, XP_047296925.1:p.Leu235Phe, NP_001340620.1:p.Leu235Phe, NP_001340618.1:p.Leu235Phe, NP_001340619.1:p.Leu235Phe, NP_001340621.1:p.Leu235Phe

                                  17.

                                  rs1484931787 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    21:31223523 (GRCh38)
                                    21:32595839 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:31223522:G:A
                                    Gene:
                                    TIAM1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0./0 (GnomAD)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1484876632 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      21:31118693 (GRCh38)
                                      21:32491011 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:31118692:T:C
                                      Gene:
                                      TIAM1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      HGVS:

                                      19.

                                      rs1484470861 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        21:31251755 (GRCh38)
                                        21:32624071 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:31251754:C:T
                                        Gene:
                                        TIAM1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000021.9:g.31251755C>T, NC_000021.8:g.32624071C>T, NM_003253.3:c.1398G>A, NM_003253.2:c.1398G>A, XM_005261040.3:c.1398G>A, XM_005261040.2:c.1398G>A, XM_005261040.1:c.1398G>A, NM_001353694.2:c.1398G>A, NM_001353694.1:c.1398G>A, NM_001353687.2:c.1398G>A, NM_001353687.1:c.1398G>A, NM_001353686.2:c.1398G>A, NM_001353686.1:c.1398G>A, NM_001353693.1:c.1398G>A, NM_001353688.1:c.1398G>A, XM_047440969.1:c.1398G>A, NM_001353691.1:c.1398G>A, NM_001353689.1:c.1398G>A, NM_001353690.1:c.1398G>A, NM_001353692.1:c.1398G>A, NP_003244.2:p.Trp466Ter, XP_005261097.1:p.Trp466Ter, NP_001340623.1:p.Trp466Ter, NP_001340616.1:p.Trp466Ter, NP_001340615.1:p.Trp466Ter, NP_001340622.1:p.Trp466Ter, NP_001340617.1:p.Trp466Ter, XP_047296925.1:p.Trp466Ter, NP_001340620.1:p.Trp466Ter, NP_001340618.1:p.Trp466Ter, NP_001340619.1:p.Trp466Ter, NP_001340621.1:p.Trp466Ter

                                        20.

                                        rs1483987194 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          21:31127134 (GRCh38)
                                          21:32499452 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:31127133:A:G
                                          Gene:
                                          TIAM1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000021.9:g.31127134A>G, NC_000021.8:g.32499452A>G, NM_003253.3:c.4064T>C, NM_003253.2:c.4064T>C, XM_005261040.3:c.4064T>C, XM_005261040.2:c.4064T>C, XM_005261040.1:c.4064T>C, NM_001353694.2:c.4064T>C, NM_001353694.1:c.4064T>C, NM_001353687.2:c.3989T>C, NM_001353687.1:c.3989T>C, NM_001353686.2:c.3989T>C, NM_001353686.1:c.3989T>C, NM_001353684.2:c.1163T>C, NM_001353684.1:c.1163T>C, NM_001353685.2:c.1088T>C, NM_001353685.1:c.1088T>C, NM_001353693.1:c.4064T>C, NM_001353688.1:c.4064T>C, XM_047440969.1:c.4064T>C, NM_001353691.1:c.4064T>C, NM_001353689.1:c.4064T>C, NM_001353690.1:c.4064T>C, NM_001353692.1:c.4064T>C, NP_003244.2:p.Val1355Ala, XP_005261097.1:p.Val1355Ala, NP_001340623.1:p.Val1355Ala, NP_001340616.1:p.Val1330Ala, NP_001340615.1:p.Val1330Ala, NP_001340613.1:p.Val388Ala, NP_001340614.1:p.Val363Ala, NP_001340622.1:p.Val1355Ala, NP_001340617.1:p.Val1355Ala, XP_047296925.1:p.Val1355Ala, NP_001340620.1:p.Val1355Ala, NP_001340618.1:p.Val1355Ala, NP_001340619.1:p.Val1355Ala, NP_001340621.1:p.Val1355Ala

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