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Items: 1 to 20 of 682

1.

rs1489328076 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:42465083 (GRCh38)
    12:42858885 (GRCh37)
    Canonical SPDI:
    NC_000012.12:42465082:A:G
    Gene:
    PRICKLE1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1489278936 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      12:42466348 (GRCh38)
      12:42860150 (GRCh37)
      Canonical SPDI:
      NC_000012.12:42466347:C:G
      Gene:
      PRICKLE1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000012.12:g.42466348C>G, NC_000012.11:g.42860150C>G, NG_012965.1:g.128423G>C, NM_153026.3:c.621G>C, NM_153026.2:c.621G>C, NM_001144882.2:c.621G>C, NM_001144882.1:c.621G>C, NM_001144883.2:c.621G>C, NM_001144883.1:c.621G>C, NM_001144881.2:c.621G>C, NM_001144881.1:c.621G>C, XM_011537947.3:c.621G>C, XM_011537947.2:c.621G>C, XM_011537947.1:c.621G>C, XM_017018839.2:c.621G>C, XM_017018839.1:c.621G>C, XM_017018840.2:c.621G>C, XM_017018840.1:c.621G>C, XM_017018838.2:c.621G>C, XM_017018838.1:c.621G>C, XM_011537946.2:c.621G>C, XM_011537946.1:c.621G>C, XM_047428335.1:c.621G>C, XM_047428327.1:c.621G>C, XM_047428328.1:c.621G>C, XM_047428333.1:c.621G>C, XM_047428332.1:c.621G>C, XM_047428329.1:c.621G>C, XM_047428334.1:c.621G>C, XM_047428330.1:c.621G>C, NP_694571.2:p.Glu207Asp, NP_001138354.1:p.Glu207Asp, NP_001138355.1:p.Glu207Asp, NP_001138353.1:p.Glu207Asp, XP_011536249.1:p.Glu207Asp, XP_016874328.1:p.Glu207Asp, XP_016874329.1:p.Glu207Asp, XP_016874327.1:p.Glu207Asp, XP_011536248.1:p.Glu207Asp, XP_047284291.1:p.Glu207Asp, XP_047284283.1:p.Glu207Asp, XP_047284284.1:p.Glu207Asp, XP_047284289.1:p.Glu207Asp, XP_047284288.1:p.Glu207Asp, XP_047284285.1:p.Glu207Asp, XP_047284290.1:p.Glu207Asp, XP_047284286.1:p.Glu207Asp

      3.

      rs1487349732 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:42466327 (GRCh38)
        12:42860129 (GRCh37)
        Canonical SPDI:
        NC_000012.12:42466326:T:C
        Gene:
        PRICKLE1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1486749442 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:42466365 (GRCh38)
          12:42860167 (GRCh37)
          Canonical SPDI:
          NC_000012.12:42466364:C:T
          Gene:
          PRICKLE1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000066/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          T=0.000223/1 (Estonian)
          HGVS:
          NC_000012.12:g.42466365C>T, NC_000012.11:g.42860167C>T, NG_012965.1:g.128406G>A, NM_153026.3:c.604G>A, NM_153026.2:c.604G>A, NM_001144882.2:c.604G>A, NM_001144882.1:c.604G>A, NM_001144883.2:c.604G>A, NM_001144883.1:c.604G>A, NM_001144881.2:c.604G>A, NM_001144881.1:c.604G>A, XM_011537947.3:c.604G>A, XM_011537947.2:c.604G>A, XM_011537947.1:c.604G>A, XM_017018839.2:c.604G>A, XM_017018839.1:c.604G>A, XM_017018840.2:c.604G>A, XM_017018840.1:c.604G>A, XM_017018838.2:c.604G>A, XM_017018838.1:c.604G>A, XM_011537946.2:c.604G>A, XM_011537946.1:c.604G>A, XM_047428335.1:c.604G>A, XM_047428327.1:c.604G>A, XM_047428328.1:c.604G>A, XM_047428333.1:c.604G>A, XM_047428332.1:c.604G>A, XM_047428329.1:c.604G>A, XM_047428334.1:c.604G>A, XM_047428330.1:c.604G>A, NP_694571.2:p.Glu202Lys, NP_001138354.1:p.Glu202Lys, NP_001138355.1:p.Glu202Lys, NP_001138353.1:p.Glu202Lys, XP_011536249.1:p.Glu202Lys, XP_016874328.1:p.Glu202Lys, XP_016874329.1:p.Glu202Lys, XP_016874327.1:p.Glu202Lys, XP_011536248.1:p.Glu202Lys, XP_047284291.1:p.Glu202Lys, XP_047284283.1:p.Glu202Lys, XP_047284284.1:p.Glu202Lys, XP_047284289.1:p.Glu202Lys, XP_047284288.1:p.Glu202Lys, XP_047284285.1:p.Glu202Lys, XP_047284290.1:p.Glu202Lys, XP_047284286.1:p.Glu202Lys

          5.

          rs1482611705 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:42470300 (GRCh38)
            12:42864102 (GRCh37)
            Canonical SPDI:
            NC_000012.12:42470299:T:C
            Gene:
            PRICKLE1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1481944717 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:42465170 (GRCh38)
              12:42858972 (GRCh37)
              Canonical SPDI:
              NC_000012.12:42465169:C:T
              Gene:
              PRICKLE1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1478748901 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:42465250 (GRCh38)
                12:42859052 (GRCh37)
                Canonical SPDI:
                NC_000012.12:42465249:G:A
                Gene:
                PRICKLE1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                HGVS:
                NC_000012.12:g.42465250G>A, NC_000012.11:g.42859052G>A, NG_012965.1:g.129521C>T, NM_153026.3:c.784C>T, NM_153026.2:c.784C>T, NM_001144882.2:c.784C>T, NM_001144882.1:c.784C>T, NM_001144883.2:c.784C>T, NM_001144883.1:c.784C>T, NM_001144881.2:c.784C>T, NM_001144881.1:c.784C>T, XM_011537947.3:c.784C>T, XM_011537947.2:c.784C>T, XM_011537947.1:c.784C>T, XM_017018839.2:c.784C>T, XM_017018839.1:c.784C>T, XM_017018840.2:c.784C>T, XM_017018840.1:c.784C>T, XM_017018838.2:c.784C>T, XM_017018838.1:c.784C>T, XM_011537946.2:c.784C>T, XM_011537946.1:c.784C>T, XM_047428335.1:c.784C>T, XM_047428327.1:c.784C>T, XM_047428328.1:c.784C>T, XM_047428333.1:c.784C>T, XM_047428332.1:c.784C>T, XM_047428329.1:c.784C>T, XM_047428334.1:c.784C>T, XM_047428330.1:c.784C>T, NP_694571.2:p.His262Tyr, NP_001138354.1:p.His262Tyr, NP_001138355.1:p.His262Tyr, NP_001138353.1:p.His262Tyr, XP_011536249.1:p.His262Tyr, XP_016874328.1:p.His262Tyr, XP_016874329.1:p.His262Tyr, XP_016874327.1:p.His262Tyr, XP_011536248.1:p.His262Tyr, XP_047284291.1:p.His262Tyr, XP_047284283.1:p.His262Tyr, XP_047284284.1:p.His262Tyr, XP_047284289.1:p.His262Tyr, XP_047284288.1:p.His262Tyr, XP_047284285.1:p.His262Tyr, XP_047284290.1:p.His262Tyr, XP_047284286.1:p.His262Tyr

                8.

                rs1477936981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:42459895 (GRCh38)
                  12:42853697 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:42459894:C:T
                  Gene:
                  PRICKLE1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.42459895C>T, NC_000012.11:g.42853697C>T, NG_012965.1:g.134876G>A, NM_153026.3:c.2410G>A, NM_153026.2:c.2410G>A, NM_001144882.2:c.2410G>A, NM_001144882.1:c.2410G>A, NM_001144883.2:c.2410G>A, NM_001144883.1:c.2410G>A, NM_001144881.2:c.2410G>A, NM_001144881.1:c.2410G>A, XM_011537947.3:c.2410G>A, XM_011537947.2:c.2410G>A, XM_011537947.1:c.2410G>A, XM_017018839.2:c.2410G>A, XM_017018839.1:c.2410G>A, XM_017018840.2:c.2410G>A, XM_017018840.1:c.2410G>A, XM_017018838.2:c.2410G>A, XM_017018838.1:c.2410G>A, XM_011537946.2:c.2410G>A, XM_011537946.1:c.2410G>A, XM_047428335.1:c.2410G>A, XM_047428327.1:c.2410G>A, XM_047428328.1:c.2410G>A, XM_047428333.1:c.2410G>A, XM_047428332.1:c.2410G>A, XM_047428329.1:c.2410G>A, XM_047428334.1:c.2410G>A, XM_047428330.1:c.2410G>A, NP_694571.2:p.Ala804Thr, NP_001138354.1:p.Ala804Thr, NP_001138355.1:p.Ala804Thr, NP_001138353.1:p.Ala804Thr, XP_011536249.1:p.Ala804Thr, XP_016874328.1:p.Ala804Thr, XP_016874329.1:p.Ala804Thr, XP_016874327.1:p.Ala804Thr, XP_011536248.1:p.Ala804Thr, XP_047284291.1:p.Ala804Thr, XP_047284283.1:p.Ala804Thr, XP_047284284.1:p.Ala804Thr, XP_047284289.1:p.Ala804Thr, XP_047284288.1:p.Ala804Thr, XP_047284285.1:p.Ala804Thr, XP_047284290.1:p.Ala804Thr, XP_047284286.1:p.Ala804Thr

                  9.

                  rs1476348131 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    12:42464627 (GRCh38)
                    12:42858429 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:42464626:A:T
                    Gene:
                    PRICKLE1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_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:

                    10.

                    rs1474386408 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:42460152 (GRCh38)
                      12:42853954 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:42460151:G:A
                      Gene:
                      PRICKLE1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.42460152G>A, NC_000012.11:g.42853954G>A, NG_012965.1:g.134619C>T, NM_153026.3:c.2153C>T, NM_153026.2:c.2153C>T, NM_001144882.2:c.2153C>T, NM_001144882.1:c.2153C>T, NM_001144883.2:c.2153C>T, NM_001144883.1:c.2153C>T, NM_001144881.2:c.2153C>T, NM_001144881.1:c.2153C>T, XM_011537947.3:c.2153C>T, XM_011537947.2:c.2153C>T, XM_011537947.1:c.2153C>T, XM_017018839.2:c.2153C>T, XM_017018839.1:c.2153C>T, XM_017018840.2:c.2153C>T, XM_017018840.1:c.2153C>T, XM_017018838.2:c.2153C>T, XM_017018838.1:c.2153C>T, XM_011537946.2:c.2153C>T, XM_011537946.1:c.2153C>T, XM_047428335.1:c.2153C>T, XM_047428327.1:c.2153C>T, XM_047428328.1:c.2153C>T, XM_047428333.1:c.2153C>T, XM_047428332.1:c.2153C>T, XM_047428329.1:c.2153C>T, XM_047428334.1:c.2153C>T, XM_047428330.1:c.2153C>T, NP_694571.2:p.Ala718Val, NP_001138354.1:p.Ala718Val, NP_001138355.1:p.Ala718Val, NP_001138353.1:p.Ala718Val, XP_011536249.1:p.Ala718Val, XP_016874328.1:p.Ala718Val, XP_016874329.1:p.Ala718Val, XP_016874327.1:p.Ala718Val, XP_011536248.1:p.Ala718Val, XP_047284291.1:p.Ala718Val, XP_047284283.1:p.Ala718Val, XP_047284284.1:p.Ala718Val, XP_047284289.1:p.Ala718Val, XP_047284288.1:p.Ala718Val, XP_047284285.1:p.Ala718Val, XP_047284290.1:p.Ala718Val, XP_047284286.1:p.Ala718Val

                      11.

                      rs1473902641 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:42468825 (GRCh38)
                        12:42862627 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:42468824:C:A
                        Gene:
                        PRICKLE1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000012.12:g.42468825C>A, NC_000012.11:g.42862627C>A, NG_012965.1:g.125946G>T, NM_153026.3:c.389G>T, NM_153026.2:c.389G>T, NM_001144882.2:c.389G>T, NM_001144882.1:c.389G>T, NM_001144883.2:c.389G>T, NM_001144883.1:c.389G>T, NM_001144881.2:c.389G>T, NM_001144881.1:c.389G>T, XM_011537947.3:c.389G>T, XM_011537947.2:c.389G>T, XM_011537947.1:c.389G>T, XM_017018839.2:c.389G>T, XM_017018839.1:c.389G>T, XM_017018840.2:c.389G>T, XM_017018840.1:c.389G>T, XM_017018838.2:c.389G>T, XM_017018838.1:c.389G>T, XM_011537946.2:c.389G>T, XM_011537946.1:c.389G>T, XM_047428335.1:c.389G>T, XM_047428327.1:c.389G>T, XM_047428328.1:c.389G>T, XM_047428333.1:c.389G>T, XM_047428332.1:c.389G>T, XM_047428329.1:c.389G>T, XM_047428334.1:c.389G>T, XM_047428330.1:c.389G>T, NP_694571.2:p.Gly130Val, NP_001138354.1:p.Gly130Val, NP_001138355.1:p.Gly130Val, NP_001138353.1:p.Gly130Val, XP_011536249.1:p.Gly130Val, XP_016874328.1:p.Gly130Val, XP_016874329.1:p.Gly130Val, XP_016874327.1:p.Gly130Val, XP_011536248.1:p.Gly130Val, XP_047284291.1:p.Gly130Val, XP_047284283.1:p.Gly130Val, XP_047284284.1:p.Gly130Val, XP_047284289.1:p.Gly130Val, XP_047284288.1:p.Gly130Val, XP_047284285.1:p.Gly130Val, XP_047284290.1:p.Gly130Val, XP_047284286.1:p.Gly130Val

                        12.

                        rs1472183837 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,T [Show Flanks]
                          Chromosome:
                          12:42464454 (GRCh38)
                          12:42858256 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:42464453:A:C,NC_000012.12:42464453:A:T
                          Gene:
                          PRICKLE1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000012.12:g.42464454A>C, NC_000012.12:g.42464454A>T, NC_000012.11:g.42858256A>C, NC_000012.11:g.42858256A>T, NG_012965.1:g.130317T>G, NG_012965.1:g.130317T>A, NM_153026.3:c.1580T>G, NM_153026.3:c.1580T>A, NM_153026.2:c.1580T>G, NM_153026.2:c.1580T>A, NM_001144882.2:c.1580T>G, NM_001144882.2:c.1580T>A, NM_001144882.1:c.1580T>G, NM_001144882.1:c.1580T>A, NM_001144883.2:c.1580T>G, NM_001144883.2:c.1580T>A, NM_001144883.1:c.1580T>G, NM_001144883.1:c.1580T>A, NM_001144881.2:c.1580T>G, NM_001144881.2:c.1580T>A, NM_001144881.1:c.1580T>G, NM_001144881.1:c.1580T>A, XM_011537947.3:c.1580T>G, XM_011537947.3:c.1580T>A, XM_011537947.2:c.1580T>G, XM_011537947.2:c.1580T>A, XM_011537947.1:c.1580T>G, XM_011537947.1:c.1580T>A, XM_017018839.2:c.1580T>G, XM_017018839.2:c.1580T>A, XM_017018839.1:c.1580T>G, XM_017018839.1:c.1580T>A, XM_017018840.2:c.1580T>G, XM_017018840.2:c.1580T>A, XM_017018840.1:c.1580T>G, XM_017018840.1:c.1580T>A, XM_017018838.2:c.1580T>G, XM_017018838.2:c.1580T>A, XM_017018838.1:c.1580T>G, XM_017018838.1:c.1580T>A, XM_011537946.2:c.1580T>G, XM_011537946.2:c.1580T>A, XM_011537946.1:c.1580T>G, XM_011537946.1:c.1580T>A, XM_047428335.1:c.1580T>G, XM_047428335.1:c.1580T>A, XM_047428327.1:c.1580T>G, XM_047428327.1:c.1580T>A, XM_047428328.1:c.1580T>G, XM_047428328.1:c.1580T>A, XM_047428333.1:c.1580T>G, XM_047428333.1:c.1580T>A, XM_047428332.1:c.1580T>G, XM_047428332.1:c.1580T>A, XM_047428329.1:c.1580T>G, XM_047428329.1:c.1580T>A, XM_047428334.1:c.1580T>G, XM_047428334.1:c.1580T>A, XM_047428330.1:c.1580T>G, XM_047428330.1:c.1580T>A, NP_694571.2:p.Leu527Arg, NP_694571.2:p.Leu527Gln, NP_001138354.1:p.Leu527Arg, NP_001138354.1:p.Leu527Gln, NP_001138355.1:p.Leu527Arg, NP_001138355.1:p.Leu527Gln, NP_001138353.1:p.Leu527Arg, NP_001138353.1:p.Leu527Gln, XP_011536249.1:p.Leu527Arg, XP_011536249.1:p.Leu527Gln, XP_016874328.1:p.Leu527Arg, XP_016874328.1:p.Leu527Gln, XP_016874329.1:p.Leu527Arg, XP_016874329.1:p.Leu527Gln, XP_016874327.1:p.Leu527Arg, XP_016874327.1:p.Leu527Gln, XP_011536248.1:p.Leu527Arg, XP_011536248.1:p.Leu527Gln, XP_047284291.1:p.Leu527Arg, XP_047284291.1:p.Leu527Gln, XP_047284283.1:p.Leu527Arg, XP_047284283.1:p.Leu527Gln, XP_047284284.1:p.Leu527Arg, XP_047284284.1:p.Leu527Gln, XP_047284289.1:p.Leu527Arg, XP_047284289.1:p.Leu527Gln, XP_047284288.1:p.Leu527Arg, XP_047284288.1:p.Leu527Gln, XP_047284285.1:p.Leu527Arg, XP_047284285.1:p.Leu527Gln, XP_047284290.1:p.Leu527Arg, XP_047284290.1:p.Leu527Gln, XP_047284286.1:p.Leu527Arg, XP_047284286.1:p.Leu527Gln

                          13.

                          rs1471867585 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            12:42468738 (GRCh38)
                            12:42862540 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:42468737:A:T
                            Gene:
                            PRICKLE1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.42468738A>T, NC_000012.11:g.42862540A>T, NG_012965.1:g.126033T>A, NM_153026.3:c.476T>A, NM_153026.2:c.476T>A, NM_001144882.2:c.476T>A, NM_001144882.1:c.476T>A, NM_001144883.2:c.476T>A, NM_001144883.1:c.476T>A, NM_001144881.2:c.476T>A, NM_001144881.1:c.476T>A, XM_011537947.3:c.476T>A, XM_011537947.2:c.476T>A, XM_011537947.1:c.476T>A, XM_017018839.2:c.476T>A, XM_017018839.1:c.476T>A, XM_017018840.2:c.476T>A, XM_017018840.1:c.476T>A, XM_017018838.2:c.476T>A, XM_017018838.1:c.476T>A, XM_011537946.2:c.476T>A, XM_011537946.1:c.476T>A, XM_047428335.1:c.476T>A, XM_047428327.1:c.476T>A, XM_047428328.1:c.476T>A, XM_047428333.1:c.476T>A, XM_047428332.1:c.476T>A, XM_047428329.1:c.476T>A, XM_047428334.1:c.476T>A, XM_047428330.1:c.476T>A, NP_694571.2:p.Phe159Tyr, NP_001138354.1:p.Phe159Tyr, NP_001138355.1:p.Phe159Tyr, NP_001138353.1:p.Phe159Tyr, XP_011536249.1:p.Phe159Tyr, XP_016874328.1:p.Phe159Tyr, XP_016874329.1:p.Phe159Tyr, XP_016874327.1:p.Phe159Tyr, XP_011536248.1:p.Phe159Tyr, XP_047284291.1:p.Phe159Tyr, XP_047284283.1:p.Phe159Tyr, XP_047284284.1:p.Phe159Tyr, XP_047284289.1:p.Phe159Tyr, XP_047284288.1:p.Phe159Tyr, XP_047284285.1:p.Phe159Tyr, XP_047284290.1:p.Phe159Tyr, XP_047284286.1:p.Phe159Tyr

                            14.

                            rs1469737110 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:42466313 (GRCh38)
                              12:42860115 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:42466312:A:G
                              Gene:
                              PRICKLE1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000066/1 (ALFA)
                              G=0.000008/2 (GnomAD_exomes)
                              G=0.000014/2 (GnomAD)
                              G=0.000223/1 (Estonian)
                              HGVS:
                              NC_000012.12:g.42466313A>G, NC_000012.11:g.42860115A>G, NG_012965.1:g.128458T>C, NM_153026.3:c.656T>C, NM_153026.2:c.656T>C, NM_001144882.2:c.656T>C, NM_001144882.1:c.656T>C, NM_001144883.2:c.656T>C, NM_001144883.1:c.656T>C, NM_001144881.2:c.656T>C, NM_001144881.1:c.656T>C, XM_011537947.3:c.656T>C, XM_011537947.2:c.656T>C, XM_011537947.1:c.656T>C, XM_017018839.2:c.656T>C, XM_017018839.1:c.656T>C, XM_017018840.2:c.656T>C, XM_017018840.1:c.656T>C, XM_017018838.2:c.656T>C, XM_017018838.1:c.656T>C, XM_011537946.2:c.656T>C, XM_011537946.1:c.656T>C, XM_047428335.1:c.656T>C, XM_047428327.1:c.656T>C, XM_047428328.1:c.656T>C, XM_047428333.1:c.656T>C, XM_047428332.1:c.656T>C, XM_047428329.1:c.656T>C, XM_047428334.1:c.656T>C, XM_047428330.1:c.656T>C, NP_694571.2:p.Leu219Pro, NP_001138354.1:p.Leu219Pro, NP_001138355.1:p.Leu219Pro, NP_001138353.1:p.Leu219Pro, XP_011536249.1:p.Leu219Pro, XP_016874328.1:p.Leu219Pro, XP_016874329.1:p.Leu219Pro, XP_016874327.1:p.Leu219Pro, XP_011536248.1:p.Leu219Pro, XP_047284291.1:p.Leu219Pro, XP_047284283.1:p.Leu219Pro, XP_047284284.1:p.Leu219Pro, XP_047284289.1:p.Leu219Pro, XP_047284288.1:p.Leu219Pro, XP_047284285.1:p.Leu219Pro, XP_047284290.1:p.Leu219Pro, XP_047284286.1:p.Leu219Pro

                              15.

                              rs1469487017 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:42460275 (GRCh38)
                                12:42854077 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:42460274:C:T
                                Gene:
                                PRICKLE1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.42460275C>T, NC_000012.11:g.42854077C>T, NG_012965.1:g.134496G>A, NM_153026.3:c.2030G>A, NM_153026.2:c.2030G>A, NM_001144882.2:c.2030G>A, NM_001144882.1:c.2030G>A, NM_001144883.2:c.2030G>A, NM_001144883.1:c.2030G>A, NM_001144881.2:c.2030G>A, NM_001144881.1:c.2030G>A, XM_011537947.3:c.2030G>A, XM_011537947.2:c.2030G>A, XM_011537947.1:c.2030G>A, XM_017018839.2:c.2030G>A, XM_017018839.1:c.2030G>A, XM_017018840.2:c.2030G>A, XM_017018840.1:c.2030G>A, XM_017018838.2:c.2030G>A, XM_017018838.1:c.2030G>A, XM_011537946.2:c.2030G>A, XM_011537946.1:c.2030G>A, XM_047428335.1:c.2030G>A, XM_047428327.1:c.2030G>A, XM_047428328.1:c.2030G>A, XM_047428333.1:c.2030G>A, XM_047428332.1:c.2030G>A, XM_047428329.1:c.2030G>A, XM_047428334.1:c.2030G>A, XM_047428330.1:c.2030G>A, NP_694571.2:p.Arg677Lys, NP_001138354.1:p.Arg677Lys, NP_001138355.1:p.Arg677Lys, NP_001138353.1:p.Arg677Lys, XP_011536249.1:p.Arg677Lys, XP_016874328.1:p.Arg677Lys, XP_016874329.1:p.Arg677Lys, XP_016874327.1:p.Arg677Lys, XP_011536248.1:p.Arg677Lys, XP_047284291.1:p.Arg677Lys, XP_047284283.1:p.Arg677Lys, XP_047284284.1:p.Arg677Lys, XP_047284289.1:p.Arg677Lys, XP_047284288.1:p.Arg677Lys, XP_047284285.1:p.Arg677Lys, XP_047284290.1:p.Arg677Lys, XP_047284286.1:p.Arg677Lys

                                16.

                                rs1469287742 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  12:42465031 (GRCh38)
                                  12:42858833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:42465030:G:T
                                  Gene:
                                  PRICKLE1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1466958238 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:42464869 (GRCh38)
                                    12:42858671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:42464868:T:C
                                    Gene:
                                    PRICKLE1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.42464869T>C, NC_000012.11:g.42858671T>C, NG_012965.1:g.129902A>G, NM_153026.3:c.1165A>G, NM_153026.2:c.1165A>G, NM_001144882.2:c.1165A>G, NM_001144882.1:c.1165A>G, NM_001144883.2:c.1165A>G, NM_001144883.1:c.1165A>G, NM_001144881.2:c.1165A>G, NM_001144881.1:c.1165A>G, XM_011537947.3:c.1165A>G, XM_011537947.2:c.1165A>G, XM_011537947.1:c.1165A>G, XM_017018839.2:c.1165A>G, XM_017018839.1:c.1165A>G, XM_017018840.2:c.1165A>G, XM_017018840.1:c.1165A>G, XM_017018838.2:c.1165A>G, XM_017018838.1:c.1165A>G, XM_011537946.2:c.1165A>G, XM_011537946.1:c.1165A>G, XM_047428335.1:c.1165A>G, XM_047428327.1:c.1165A>G, XM_047428328.1:c.1165A>G, XM_047428333.1:c.1165A>G, XM_047428332.1:c.1165A>G, XM_047428329.1:c.1165A>G, XM_047428334.1:c.1165A>G, XM_047428330.1:c.1165A>G, NP_694571.2:p.Ser389Gly, NP_001138354.1:p.Ser389Gly, NP_001138355.1:p.Ser389Gly, NP_001138353.1:p.Ser389Gly, XP_011536249.1:p.Ser389Gly, XP_016874328.1:p.Ser389Gly, XP_016874329.1:p.Ser389Gly, XP_016874327.1:p.Ser389Gly, XP_011536248.1:p.Ser389Gly, XP_047284291.1:p.Ser389Gly, XP_047284283.1:p.Ser389Gly, XP_047284284.1:p.Ser389Gly, XP_047284289.1:p.Ser389Gly, XP_047284288.1:p.Ser389Gly, XP_047284285.1:p.Ser389Gly, XP_047284290.1:p.Ser389Gly, XP_047284286.1:p.Ser389Gly

                                    18.

                                    rs1462485485 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      12:42465220 (GRCh38)
                                      12:42859022 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:42465219:A:G
                                      Gene:
                                      PRICKLE1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.42465220A>G, NC_000012.11:g.42859022A>G, NG_012965.1:g.129551T>C, NM_153026.3:c.814T>C, NM_153026.2:c.814T>C, NM_001144882.2:c.814T>C, NM_001144882.1:c.814T>C, NM_001144883.2:c.814T>C, NM_001144883.1:c.814T>C, NM_001144881.2:c.814T>C, NM_001144881.1:c.814T>C, XM_011537947.3:c.814T>C, XM_011537947.2:c.814T>C, XM_011537947.1:c.814T>C, XM_017018839.2:c.814T>C, XM_017018839.1:c.814T>C, XM_017018840.2:c.814T>C, XM_017018840.1:c.814T>C, XM_017018838.2:c.814T>C, XM_017018838.1:c.814T>C, XM_011537946.2:c.814T>C, XM_011537946.1:c.814T>C, XM_047428335.1:c.814T>C, XM_047428327.1:c.814T>C, XM_047428328.1:c.814T>C, XM_047428333.1:c.814T>C, XM_047428332.1:c.814T>C, XM_047428329.1:c.814T>C, XM_047428334.1:c.814T>C, XM_047428330.1:c.814T>C, NP_694571.2:p.Trp272Arg, NP_001138354.1:p.Trp272Arg, NP_001138355.1:p.Trp272Arg, NP_001138353.1:p.Trp272Arg, XP_011536249.1:p.Trp272Arg, XP_016874328.1:p.Trp272Arg, XP_016874329.1:p.Trp272Arg, XP_016874327.1:p.Trp272Arg, XP_011536248.1:p.Trp272Arg, XP_047284291.1:p.Trp272Arg, XP_047284283.1:p.Trp272Arg, XP_047284284.1:p.Trp272Arg, XP_047284289.1:p.Trp272Arg, XP_047284288.1:p.Trp272Arg, XP_047284285.1:p.Trp272Arg, XP_047284290.1:p.Trp272Arg, XP_047284286.1:p.Trp272Arg

                                      19.

                                      rs1462408455 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:42460546 (GRCh38)
                                        12:42854348 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:42460545:T:C
                                        Gene:
                                        PRICKLE1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.42460546T>C, NC_000012.11:g.42854348T>C, NG_012965.1:g.134225A>G, NM_153026.3:c.1759A>G, NM_153026.2:c.1759A>G, NM_001144882.2:c.1759A>G, NM_001144882.1:c.1759A>G, NM_001144883.2:c.1759A>G, NM_001144883.1:c.1759A>G, NM_001144881.2:c.1759A>G, NM_001144881.1:c.1759A>G, XM_011537947.3:c.1759A>G, XM_011537947.2:c.1759A>G, XM_011537947.1:c.1759A>G, XM_017018839.2:c.1759A>G, XM_017018839.1:c.1759A>G, XM_017018840.2:c.1759A>G, XM_017018840.1:c.1759A>G, XM_017018838.2:c.1759A>G, XM_017018838.1:c.1759A>G, XM_011537946.2:c.1759A>G, XM_011537946.1:c.1759A>G, XM_047428335.1:c.1759A>G, XM_047428327.1:c.1759A>G, XM_047428328.1:c.1759A>G, XM_047428333.1:c.1759A>G, XM_047428332.1:c.1759A>G, XM_047428329.1:c.1759A>G, XM_047428334.1:c.1759A>G, XM_047428330.1:c.1759A>G, NP_694571.2:p.Met587Val, NP_001138354.1:p.Met587Val, NP_001138355.1:p.Met587Val, NP_001138353.1:p.Met587Val, XP_011536249.1:p.Met587Val, XP_016874328.1:p.Met587Val, XP_016874329.1:p.Met587Val, XP_016874327.1:p.Met587Val, XP_011536248.1:p.Met587Val, XP_047284291.1:p.Met587Val, XP_047284283.1:p.Met587Val, XP_047284284.1:p.Met587Val, XP_047284289.1:p.Met587Val, XP_047284288.1:p.Met587Val, XP_047284285.1:p.Met587Val, XP_047284290.1:p.Met587Val, XP_047284286.1:p.Met587Val

                                        20.

                                        rs1460411446 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:42460446 (GRCh38)
                                          12:42854248 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:42460445:C:G
                                          Gene:
                                          PRICKLE1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.42460446C>G, NC_000012.11:g.42854248C>G, NG_012965.1:g.134325G>C, NM_153026.3:c.1859G>C, NM_153026.2:c.1859G>C, NM_001144882.2:c.1859G>C, NM_001144882.1:c.1859G>C, NM_001144883.2:c.1859G>C, NM_001144883.1:c.1859G>C, NM_001144881.2:c.1859G>C, NM_001144881.1:c.1859G>C, XM_011537947.3:c.1859G>C, XM_011537947.2:c.1859G>C, XM_011537947.1:c.1859G>C, XM_017018839.2:c.1859G>C, XM_017018839.1:c.1859G>C, XM_017018840.2:c.1859G>C, XM_017018840.1:c.1859G>C, XM_017018838.2:c.1859G>C, XM_017018838.1:c.1859G>C, XM_011537946.2:c.1859G>C, XM_011537946.1:c.1859G>C, XM_047428335.1:c.1859G>C, XM_047428327.1:c.1859G>C, XM_047428328.1:c.1859G>C, XM_047428333.1:c.1859G>C, XM_047428332.1:c.1859G>C, XM_047428329.1:c.1859G>C, XM_047428334.1:c.1859G>C, XM_047428330.1:c.1859G>C, NP_694571.2:p.Arg620Thr, NP_001138354.1:p.Arg620Thr, NP_001138355.1:p.Arg620Thr, NP_001138353.1:p.Arg620Thr, XP_011536249.1:p.Arg620Thr, XP_016874328.1:p.Arg620Thr, XP_016874329.1:p.Arg620Thr, XP_016874327.1:p.Arg620Thr, XP_011536248.1:p.Arg620Thr, XP_047284291.1:p.Arg620Thr, XP_047284283.1:p.Arg620Thr, XP_047284284.1:p.Arg620Thr, XP_047284289.1:p.Arg620Thr, XP_047284288.1:p.Arg620Thr, XP_047284285.1:p.Arg620Thr, XP_047284290.1:p.Arg620Thr, XP_047284286.1:p.Arg620Thr

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