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Items: 1 to 20 of 6214

1.

rs2230472 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:81906878 (GRCh38)
    17:79864754 (GRCh37)
    Canonical SPDI:
    NC_000017.11:81906877:G:A
    Gene:
    PCYT2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.006808/390 (ALFA)
    A=0.005155/1291 (GnomAD_exomes)
    A=0.006062/724 (ExAC)
    A=0.009259/2 (Qatari)
    A=0.021612/281 (GoESP)
    A=0.02184/3063 (GnomAD)
    A=0.02192/5802 (TOPMED)
    A=0.025141/126 (1000Genomes)
    A=0.074684/59 (HapMap)
    G=0.5/3 (SGDP_PRJ)
    HGVS:
    NC_000017.11:g.81906878G>A, NC_000017.10:g.79864754G>A, XM_005256386.5:c.516C>T, XM_005256386.4:c.516C>T, XM_005256386.3:c.516C>T, XM_005256386.2:c.516C>T, XM_005256386.1:c.516C>T, NM_002861.5:c.558C>T, NM_002861.4:c.558C>T, NM_002861.3:c.558C>T, XM_006722287.5:c.612C>T, XM_006722287.4:c.612C>T, XM_006722287.3:c.612C>T, XM_006722287.2:c.612C>T, XM_006722287.1:c.612C>T, XM_005256387.4:c.516C>T, XM_005256387.3:c.516C>T, XM_005256387.2:c.516C>T, XM_005256387.1:c.516C>T, NM_001256435.3:c.324C>T, NM_001256435.2:c.324C>T, NM_001256435.1:c.324C>T, NM_001184917.3:c.612C>T, NM_001184917.2:c.612C>T, NM_001184917.1:c.612C>T, NM_001256434.3:c.435C>T, NM_001256434.2:c.435C>T, NM_001256434.1:c.435C>T, NM_001256433.3:c.396C>T, NM_001256433.2:c.396C>T, NM_001256433.1:c.396C>T, NM_001282203.2:c.324C>T, NM_001282203.1:c.324C>T, NM_001282204.2:c.462C>T, NM_001282204.1:c.462C>T, NM_001330518.2:c.558C>T, NM_001330518.1:c.558C>T, NR_033683.1:n.1054C>T, NR_033682.1:n.951C>T, NR_033685.1:n.770C>T, NR_033681.1:n.719C>T

    PubMed

    2.

    rs2230474 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      17:81904728 (GRCh38)
      17:79862604 (GRCh37)
      Canonical SPDI:
      NC_000017.11:81904727:C:G,NC_000017.11:81904727:C:T
      Gene:
      PCYT2 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000396/6 (ALFA)
      G=0./0 (ALSPAC)
      G=0.00027/1 (TWINSUK)
      G=0.009259/2 (Qatari)
      G=0.023008/6090 (TOPMED)
      G=0.027171/136 (1000Genomes)
      C=0.5/6 (SGDP_PRJ)
      HGVS:
      NC_000017.11:g.81904728C>G, NC_000017.11:g.81904728C>T, NC_000017.10:g.79862604C>G, NC_000017.10:g.79862604C>T, XM_005256386.5:c.*105G>C, XM_005256386.5:c.*105G>A, XM_005256386.4:c.*105G>C, XM_005256386.4:c.*105G>A, XM_005256386.3:c.*105G>C, XM_005256386.3:c.*105G>A, XM_005256386.2:c.*105G>C, XM_005256386.2:c.*105G>A, XM_005256386.1:c.*105G>C, XM_005256386.1:c.*105G>A, NM_002861.5:c.*105G>C, NM_002861.5:c.*105G>A, NM_002861.4:c.*105G>C, NM_002861.4:c.*105G>A, NM_002861.3:c.*105G>C, NM_002861.3:c.*105G>A, XM_006722287.5:c.*105G>C, XM_006722287.5:c.*105G>A, XM_006722287.4:c.*105G>C, XM_006722287.4:c.*105G>A, XM_006722287.3:c.*105G>C, XM_006722287.3:c.*105G>A, XM_006722287.2:c.*105G>C, XM_006722287.2:c.*105G>A, XM_006722287.1:c.*105G>C, XM_006722287.1:c.*105G>A, XM_005256387.4:c.*105G>C, XM_005256387.4:c.*105G>A, XM_005256387.3:c.*105G>C, XM_005256387.3:c.*105G>A, XM_005256387.2:c.*105G>C, XM_005256387.2:c.*105G>A, XM_005256387.1:c.*105G>C, XM_005256387.1:c.*105G>A, NM_001256435.3:c.*105G>C, NM_001256435.3:c.*105G>A, NM_001256435.2:c.*105G>C, NM_001256435.2:c.*105G>A, NM_001256435.1:c.*105G>C, NM_001256435.1:c.*105G>A, NM_001184917.3:c.*105G>C, NM_001184917.3:c.*105G>A, NM_001184917.2:c.*105G>C, NM_001184917.2:c.*105G>A, NM_001184917.1:c.*105G>C, NM_001184917.1:c.*105G>A, NM_001256434.3:c.*105G>C, NM_001256434.3:c.*105G>A, NM_001256434.2:c.*105G>C, NM_001256434.2:c.*105G>A, NM_001256434.1:c.*105G>C, NM_001256434.1:c.*105G>A, NM_001256433.3:c.*105G>C, NM_001256433.3:c.*105G>A, NM_001256433.2:c.*105G>C, NM_001256433.2:c.*105G>A, NM_001256433.1:c.*105G>C, NM_001256433.1:c.*105G>A, NM_001282203.2:c.*105G>C, NM_001282203.2:c.*105G>A, NM_001282203.1:c.*105G>C, NM_001282203.1:c.*105G>A, NM_001282204.2:c.*105G>C, NM_001282204.2:c.*105G>A, NM_001282204.1:c.*105G>C, NM_001282204.1:c.*105G>A, NM_001330518.2:c.*105G>C, NM_001330518.2:c.*105G>A, NM_001330518.1:c.*105G>C, NM_001330518.1:c.*105G>A, NR_033683.1:n.1771G>C, NR_033683.1:n.1771G>A, NR_033682.1:n.1668G>C, NR_033682.1:n.1668G>A, NR_033685.1:n.1487G>C, NR_033685.1:n.1487G>A, NR_033681.1:n.1436G>C, NR_033681.1:n.1436G>A

      PubMed

      3.

      rs7405872 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:81904754 (GRCh38)
        17:79862630 (GRCh37)
        Canonical SPDI:
        NC_000017.11:81904753:G:A
        Gene:
        PCYT2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.051682/1595 (ALFA)
        A=0.01596/267 (TOMMO)
        A=0.023148/5 (Vietnamese)
        A=0.027379/80 (KOREAN)
        A=0.027778/6 (Qatari)
        A=0.031835/17 (MGP)
        A=0.034406/9107 (TOPMED)
        A=0.037633/188 (1000Genomes)
        A=0.037912/5317 (GnomAD)
        A=0.05/2 (GENOME_DK)
        A=0.05511/55 (GoNL)
        A=0.057084/220 (ALSPAC)
        A=0.058792/218 (TWINSUK)
        A=0.06808/305 (Estonian)
        A=0.068333/41 (NorthernSweden)
        G=0.477273/21 (SGDP_PRJ)
        HGVS:
        NC_000017.11:g.81904754G>A, NC_000017.10:g.79862630G>A, XM_005256386.5:c.*79C>T, XM_005256386.4:c.*79C>T, XM_005256386.3:c.*79C>T, XM_005256386.2:c.*79C>T, XM_005256386.1:c.*79C>T, NM_002861.5:c.*79C>T, NM_002861.4:c.*79C>T, NM_002861.3:c.*79C>T, XM_006722287.5:c.*79C>T, XM_006722287.4:c.*79C>T, XM_006722287.3:c.*79C>T, XM_006722287.2:c.*79C>T, XM_006722287.1:c.*79C>T, XM_005256387.4:c.*79C>T, XM_005256387.3:c.*79C>T, XM_005256387.2:c.*79C>T, XM_005256387.1:c.*79C>T, NM_001256435.3:c.*79C>T, NM_001256435.2:c.*79C>T, NM_001256435.1:c.*79C>T, NM_001184917.3:c.*79C>T, NM_001184917.2:c.*79C>T, NM_001184917.1:c.*79C>T, NM_001256434.3:c.*79C>T, NM_001256434.2:c.*79C>T, NM_001256434.1:c.*79C>T, NM_001256433.3:c.*79C>T, NM_001256433.2:c.*79C>T, NM_001256433.1:c.*79C>T, NM_001282203.2:c.*79C>T, NM_001282203.1:c.*79C>T, NM_001282204.2:c.*79C>T, NM_001282204.1:c.*79C>T, NM_001330518.2:c.*79C>T, NM_001330518.1:c.*79C>T, NR_033683.1:n.1745C>T, NR_033682.1:n.1642C>T, NR_033685.1:n.1461C>T, NR_033681.1:n.1410C>T

        4.

        rs8069388 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:81904948 (GRCh38)
          17:79862824 (GRCh37)
          Canonical SPDI:
          NC_000017.11:81904947:A:G
          Gene:
          PCYT2 (Varview)
          Functional Consequence:
          intron_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.015039/2349 (ALFA)
          G=0.000539/2 (TWINSUK)
          G=0.001297/5 (ALSPAC)
          G=0.003745/2 (MGP)
          G=0.017201/4225 (GnomAD_exomes)
          G=0.022074/2447 (ExAC)
          G=0.041667/9 (Qatari)
          G=0.070269/352 (1000Genomes)
          G=0.072859/10140 (GnomAD)
          G=0.073869/960 (GoESP)
          G=0.075825/20070 (TOPMED)
          G=0.172608/184 (HapMap)
          A=0.394737/15 (SGDP_PRJ)
          HGVS:

          5.

          rs35473202 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:81908903 (GRCh38)
            17:79866779 (GRCh37)
            Canonical SPDI:
            NC_000017.11:81908902:A:G
            Gene:
            PCYT2 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000531/70 (ALFA)
            G=0./0 (TWINSUK)
            G=0.000025/2 (PAGE_STUDY)
            G=0.000207/29 (GnomAD)
            G=0.000249/66 (TOPMED)
            G=0.000259/1 (ALSPAC)
            G=0.000273/33 (ExAC)
            G=0.000283/71 (GnomAD_exomes)
            G=0.000308/4 (GoESP)
            HGVS:
            NC_000017.11:g.81908903A>G, NC_000017.10:g.79866779A>G, XM_005256386.5:c.217T>C, XM_005256386.4:c.217T>C, XM_005256386.3:c.217T>C, XM_005256386.2:c.217T>C, XM_005256386.1:c.217T>C, NM_002861.5:c.313T>C, NM_002861.4:c.313T>C, NM_002861.3:c.313T>C, XM_006722287.5:c.313T>C, XM_006722287.4:c.313T>C, XM_006722287.3:c.313T>C, XM_006722287.2:c.313T>C, XM_006722287.1:c.313T>C, XM_005256387.4:c.217T>C, XM_005256387.3:c.217T>C, XM_005256387.2:c.217T>C, XM_005256387.1:c.217T>C, NM_001256435.3:c.79T>C, NM_001256435.2:c.79T>C, NM_001256435.1:c.79T>C, NM_001184917.3:c.313T>C, NM_001184917.2:c.313T>C, NM_001184917.1:c.313T>C, NM_001256434.3:c.136T>C, NM_001256434.2:c.136T>C, NM_001256434.1:c.136T>C, NM_001282203.2:c.79T>C, NM_001282203.1:c.79T>C, NM_001282204.2:c.217T>C, NM_001282204.1:c.217T>C, NM_001330518.2:c.313T>C, NM_001330518.1:c.313T>C, NR_033683.1:n.809T>C, NR_033682.1:n.706T>C, NR_033685.1:n.525T>C, NR_033681.1:n.420T>C, XP_005256443.1:p.Tyr73His, NP_002852.1:p.Tyr105His, XP_006722350.1:p.Tyr105His, XP_005256444.1:p.Tyr73His, NP_001243364.1:p.Tyr27His, NP_001171846.1:p.Tyr105His, NP_001243363.1:p.Tyr46His, NP_001269132.1:p.Tyr27His, NP_001269133.1:p.Tyr73His, NP_001317447.1:p.Tyr105His

            6.

            rs74006128 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:81905059 (GRCh38)
              17:79862935 (GRCh37)
              Canonical SPDI:
              NC_000017.11:81905058:A:G
              Gene:
              PCYT2 (Varview)
              Functional Consequence:
              intron_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.005678/256 (ALFA)
              G=0./0 (TWINSUK)
              G=0.000035/1 (TOMMO)
              G=0.001038/4 (ALSPAC)
              G=0.001873/1 (MGP)
              G=0.00463/1 (Qatari)
              G=0.005217/1297 (GnomAD_exomes)
              G=0.006728/755 (ExAC)
              G=0.018582/93 (1000Genomes)
              G=0.019767/2759 (GnomAD)
              G=0.021708/5746 (TOPMED)
              G=0.022074/287 (GoESP)
              A=0.5/3 (SGDP_PRJ)
              HGVS:

              7.

              rs74006129 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:81906551 (GRCh38)
                17:79864427 (GRCh37)
                Canonical SPDI:
                NC_000017.11:81906550:A:G
                Gene:
                PCYT2 (Varview)
                Functional Consequence:
                intron_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.01302/588 (ALFA)
                G=0.00027/1 (TWINSUK)
                G=0.000342/1 (KOREAN)
                G=0.000778/3 (ALSPAC)
                G=0.005618/3 (MGP)
                G=0.011655/2927 (GnomAD_exomes)
                G=0.013889/3 (Qatari)
                G=0.014289/1727 (ExAC)
                G=0.047075/6599 (GnomAD)
                G=0.048824/635 (GoESP)
                G=0.049243/13034 (TOPMED)
                G=0.049813/249 (1000Genomes)
                A=0.5/8 (SGDP_PRJ)
                HGVS:

                8.

                rs74006131 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  17:81908547 (GRCh38)
                  17:79866423 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:81908546:A:C,NC_000017.11:81908546:A:G
                  Gene:
                  PCYT2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.031527/733 (ALFA)
                  G=0.000539/2 (TWINSUK)
                  G=0.001297/5 (ALSPAC)
                  G=0.001873/1 (MGP)
                  G=0.050926/11 (Qatari)
                  G=0.072455/363 (1000Genomes)
                  G=0.075603/10603 (GnomAD)
                  G=0.078219/1017 (GoESP)
                  G=0.079531/21051 (TOPMED)
                  A=0.380952/16 (SGDP_PRJ)
                  HGVS:

                  9.

                  rs143269211 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:81906207 (GRCh38)
                    17:79864083 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:81906206:G:A
                    Gene:
                    PCYT2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.013053/318 (ALFA)
                    A=0.003745/2 (MGP)
                    A=0.006067/1274 (GnomAD_exomes)
                    A=0.009852/724 (ExAC)
                    A=0.023148/5 (Qatari)
                    A=0.02315/3246 (GnomAD)
                    A=0.024984/125 (1000Genomes)
                    A=0.025092/326 (GoESP)
                    A=0.025226/6677 (TOPMED)
                    A=0.037124/2918 (PAGE_STUDY)
                    G=0.5/5 (SGDP_PRJ)
                    HGVS:

                    10.

                    rs146889521 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      17:81905006 (GRCh38)
                      17:79862882 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:81905005:C:G,NC_000017.11:81905005:C:T
                      Gene:
                      PCYT2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.004504/32 (ALFA)
                      C=0./0 (ALSPAC)
                      C=0./0 (GENOME_DK)
                      T=0./0 (KOREAN)
                      C=0./0 (SGDP_PRJ)
                      C=0./0 (Siberian)
                      C=0./0 (TWINSUK)
                      C=0.002654/44 (TOMMO)
                      C=0.004695/1 (Vietnamese)
                      C=0.007642/14 (Korea1K)
                      C=0.009259/2 (Qatari)
                      C=0.013333/8 (NorthernSweden)
                      C=0.013578/68 (1000Genomes)
                      C=0.016971/4492 (TOPMED)
                      C=0.021057/2948 (GnomAD)
                      G=0.299625/160 (MGP)
                      HGVS:

                      11.

                      rs200287081 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:81906885 (GRCh38)
                        17:79864761 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:81906884:C:T
                        Gene:
                        PCYT2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000409/42 (ALFA)
                        T=0./0 (ALSPAC)
                        T=0.000114/16 (GnomAD)
                        T=0.000142/2 (TOMMO)
                        T=0.000162/43 (TOPMED)
                        T=0.000231/3 (GoESP)
                        T=0.00027/1 (TWINSUK)
                        T=0.000276/69 (GnomAD_exomes)
                        T=0.000303/36 (ExAC)
                        HGVS:
                        NC_000017.11:g.81906885C>T, NC_000017.10:g.79864761C>T, XM_005256386.5:c.509G>A, XM_005256386.4:c.509G>A, XM_005256386.3:c.509G>A, XM_005256386.2:c.509G>A, XM_005256386.1:c.509G>A, NM_002861.5:c.551G>A, NM_002861.4:c.551G>A, NM_002861.3:c.551G>A, XM_006722287.5:c.605G>A, XM_006722287.4:c.605G>A, XM_006722287.3:c.605G>A, XM_006722287.2:c.605G>A, XM_006722287.1:c.605G>A, XM_005256387.4:c.509G>A, XM_005256387.3:c.509G>A, XM_005256387.2:c.509G>A, XM_005256387.1:c.509G>A, NM_001256435.3:c.317G>A, NM_001256435.2:c.317G>A, NM_001256435.1:c.317G>A, NM_001184917.3:c.605G>A, NM_001184917.2:c.605G>A, NM_001184917.1:c.605G>A, NM_001256434.3:c.428G>A, NM_001256434.2:c.428G>A, NM_001256434.1:c.428G>A, NM_001256433.3:c.389G>A, NM_001256433.2:c.389G>A, NM_001256433.1:c.389G>A, NM_001282203.2:c.317G>A, NM_001282203.1:c.317G>A, NM_001282204.2:c.455G>A, NM_001282204.1:c.455G>A, NM_001330518.2:c.551G>A, NM_001330518.1:c.551G>A, NR_033683.1:n.1047G>A, NR_033682.1:n.944G>A, NR_033685.1:n.763G>A, NR_033681.1:n.712G>A, XP_005256443.1:p.Arg170Gln, NP_002852.1:p.Arg184Gln, XP_006722350.1:p.Arg202Gln, XP_005256444.1:p.Arg170Gln, NP_001243364.1:p.Arg106Gln, NP_001171846.1:p.Arg202Gln, NP_001243363.1:p.Arg143Gln, NP_001243362.1:p.Arg130Gln, NP_001269132.1:p.Arg106Gln, NP_001269133.1:p.Arg152Gln, NP_001317447.1:p.Arg184Gln

                        12.

                        rs377278120 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:81904928 (GRCh38)
                          17:79862804 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:81904927:G:A
                          Gene:
                          PCYT2 (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant
                          Clinical significance:
                          pathogenic
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000098/5 (ALFA)
                          A=0.000027/3 (ExAC)
                          A=0.00005/7 (GnomAD)
                          A=0.000057/14 (GnomAD_exomes)
                          A=0.000077/1 (GoESP)
                          A=0.000079/21 (TOPMED)
                          HGVS:
                          NC_000017.11:g.81904928G>A, NC_000017.10:g.79862804G>A, XM_005256386.5:c.1033C>T, XM_005256386.4:c.1033C>T, XM_005256386.3:c.1033C>T, XM_005256386.2:c.1033C>T, XM_005256386.1:c.1033C>T, NM_002861.5:c.1075C>T, NM_002861.4:c.1075C>T, NM_002861.3:c.1075C>T, XM_006722287.5:c.1063C>T, XM_006722287.4:c.1063C>T, XM_006722287.3:c.1063C>T, XM_006722287.2:c.1063C>T, XM_006722287.1:c.1063C>T, XM_005256387.4:c.1033C>T, XM_005256387.3:c.1033C>T, XM_005256387.2:c.1033C>T, XM_005256387.1:c.1033C>T, NM_001256435.3:c.841C>T, NM_001256435.2:c.841C>T, NM_001256435.1:c.841C>T, NM_001184917.3:c.1129C>T, NM_001184917.2:c.1129C>T, NM_001184917.1:c.1129C>T, NM_001256434.3:c.952C>T, NM_001256434.2:c.952C>T, NM_001256434.1:c.952C>T, NM_001256433.3:c.913C>T, NM_001256433.2:c.913C>T, NM_001256433.1:c.913C>T, NM_001282203.2:c.841C>T, NM_001282203.1:c.841C>T, NM_001282204.2:c.979C>T, NM_001282204.1:c.979C>T, NM_001330518.2:c.1009C>T, NM_001330518.1:c.1009C>T, NR_033683.1:n.1571C>T, NR_033682.1:n.1468C>T, NR_033685.1:n.1287C>T, NR_033681.1:n.1236C>T, XP_005256443.1:p.Arg345Ter, NP_002852.1:p.Arg359Ter, XP_006722350.1:p.Arg355Ter, XP_005256444.1:p.Arg345Ter, NP_001243364.1:p.Arg281Ter, NP_001171846.1:p.Arg377Ter, NP_001243363.1:p.Arg318Ter, NP_001243362.1:p.Arg305Ter, NP_001269132.1:p.Arg281Ter, NP_001269133.1:p.Arg327Ter, NP_001317447.1:p.Arg337Ter

                          13.

                          rs550614133 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            17:81911285 (GRCh38)
                            17:79869161 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:81911284:C:G
                            Gene:
                            PCYT2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            G=0.000144/7 (GnomAD_exomes)
                            G=0.000312/2 (1000Genomes)
                            G=0.000865/2 (ExAC)
                            HGVS:

                            14.

                            rs569322551 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              17:81906881 (GRCh38)
                              17:79864757 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:81906880:G:C,NC_000017.11:81906880:G:T
                              Gene:
                              PCYT2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              T=0.000312/2 (1000Genomes)
                              HGVS:
                              NC_000017.11:g.81906881G>C, NC_000017.11:g.81906881G>T, NC_000017.10:g.79864757G>C, NC_000017.10:g.79864757G>T, XM_005256386.5:c.513C>G, XM_005256386.5:c.513C>A, XM_005256386.4:c.513C>G, XM_005256386.4:c.513C>A, XM_005256386.3:c.513C>G, XM_005256386.3:c.513C>A, XM_005256386.2:c.513C>G, XM_005256386.2:c.513C>A, XM_005256386.1:c.513C>G, XM_005256386.1:c.513C>A, NM_002861.5:c.555C>G, NM_002861.5:c.555C>A, NM_002861.4:c.555C>G, NM_002861.4:c.555C>A, NM_002861.3:c.555C>G, NM_002861.3:c.555C>A, XM_006722287.5:c.609C>G, XM_006722287.5:c.609C>A, XM_006722287.4:c.609C>G, XM_006722287.4:c.609C>A, XM_006722287.3:c.609C>G, XM_006722287.3:c.609C>A, XM_006722287.2:c.609C>G, XM_006722287.2:c.609C>A, XM_006722287.1:c.609C>G, XM_006722287.1:c.609C>A, XM_005256387.4:c.513C>G, XM_005256387.4:c.513C>A, XM_005256387.3:c.513C>G, XM_005256387.3:c.513C>A, XM_005256387.2:c.513C>G, XM_005256387.2:c.513C>A, XM_005256387.1:c.513C>G, XM_005256387.1:c.513C>A, NM_001256435.3:c.321C>G, NM_001256435.3:c.321C>A, NM_001256435.2:c.321C>G, NM_001256435.2:c.321C>A, NM_001256435.1:c.321C>G, NM_001256435.1:c.321C>A, NM_001184917.3:c.609C>G, NM_001184917.3:c.609C>A, NM_001184917.2:c.609C>G, NM_001184917.2:c.609C>A, NM_001184917.1:c.609C>G, NM_001184917.1:c.609C>A, NM_001256434.3:c.432C>G, NM_001256434.3:c.432C>A, NM_001256434.2:c.432C>G, NM_001256434.2:c.432C>A, NM_001256434.1:c.432C>G, NM_001256434.1:c.432C>A, NM_001256433.3:c.393C>G, NM_001256433.3:c.393C>A, NM_001256433.2:c.393C>G, NM_001256433.2:c.393C>A, NM_001256433.1:c.393C>G, NM_001256433.1:c.393C>A, NM_001282203.2:c.321C>G, NM_001282203.2:c.321C>A, NM_001282203.1:c.321C>G, NM_001282203.1:c.321C>A, NM_001282204.2:c.459C>G, NM_001282204.2:c.459C>A, NM_001282204.1:c.459C>G, NM_001282204.1:c.459C>A, NM_001330518.2:c.555C>G, NM_001330518.2:c.555C>A, NM_001330518.1:c.555C>G, NM_001330518.1:c.555C>A, NR_033683.1:n.1051C>G, NR_033683.1:n.1051C>A, NR_033682.1:n.948C>G, NR_033682.1:n.948C>A, NR_033685.1:n.767C>G, NR_033685.1:n.767C>A, NR_033681.1:n.716C>G, NR_033681.1:n.716C>A, XP_005256443.1:p.Asn171Lys, XP_005256443.1:p.Asn171Lys, NP_002852.1:p.Asn185Lys, NP_002852.1:p.Asn185Lys, XP_006722350.1:p.Asn203Lys, XP_006722350.1:p.Asn203Lys, XP_005256444.1:p.Asn171Lys, XP_005256444.1:p.Asn171Lys, NP_001243364.1:p.Asn107Lys, NP_001243364.1:p.Asn107Lys, NP_001171846.1:p.Asn203Lys, NP_001171846.1:p.Asn203Lys, NP_001243363.1:p.Asn144Lys, NP_001243363.1:p.Asn144Lys, NP_001243362.1:p.Asn131Lys, NP_001243362.1:p.Asn131Lys, NP_001269132.1:p.Asn107Lys, NP_001269132.1:p.Asn107Lys, NP_001269133.1:p.Asn153Lys, NP_001269133.1:p.Asn153Lys, NP_001317447.1:p.Asn185Lys, NP_001317447.1:p.Asn185Lys

                              15.

                              rs578101513 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:81905115 (GRCh38)
                                17:79862991 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:81905114:C:T
                                Gene:
                                PCYT2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000076/19 (GnomAD_exomes)
                                T=0.000114/13 (ExAC)
                                T=0.000312/2 (1000Genomes)
                                HGVS:
                                NC_000017.11:g.81905115C>T, NC_000017.10:g.79862991C>T, XM_005256386.5:c.967G>A, XM_005256386.4:c.967G>A, XM_005256386.3:c.967G>A, XM_005256386.2:c.967G>A, XM_005256386.1:c.967G>A, NM_002861.5:c.1009G>A, NM_002861.4:c.1009G>A, NM_002861.3:c.1009G>A, XM_006722287.5:c.997G>A, XM_006722287.4:c.997G>A, XM_006722287.3:c.997G>A, XM_006722287.2:c.997G>A, XM_006722287.1:c.997G>A, XM_005256387.4:c.967G>A, XM_005256387.3:c.967G>A, XM_005256387.2:c.967G>A, XM_005256387.1:c.967G>A, NM_001256435.3:c.775G>A, NM_001256435.2:c.775G>A, NM_001256435.1:c.775G>A, NM_001184917.3:c.1063G>A, NM_001184917.2:c.1063G>A, NM_001184917.1:c.1063G>A, NM_001256434.3:c.886G>A, NM_001256434.2:c.886G>A, NM_001256434.1:c.886G>A, NM_001256433.3:c.847G>A, NM_001256433.2:c.847G>A, NM_001256433.1:c.847G>A, NM_001282203.2:c.775G>A, NM_001282203.1:c.775G>A, NM_001282204.2:c.913G>A, NM_001282204.1:c.913G>A, NM_001330518.2:c.943G>A, NM_001330518.1:c.943G>A, NR_033683.1:n.1505G>A, NR_033682.1:n.1402G>A, NR_033685.1:n.1221G>A, NR_033681.1:n.1170G>A, XP_005256443.1:p.Gly323Ser, NP_002852.1:p.Gly337Ser, XP_006722350.1:p.Gly333Ser, XP_005256444.1:p.Gly323Ser, NP_001243364.1:p.Gly259Ser, NP_001171846.1:p.Gly355Ser, NP_001243363.1:p.Gly296Ser, NP_001243362.1:p.Gly283Ser, NP_001269132.1:p.Gly259Ser, NP_001269133.1:p.Gly305Ser, NP_001317447.1:p.Gly315Ser

                                16.

                                rs778113360 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  17:81906760 (GRCh38)
                                  17:79864636 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:81906759:G:A,NC_000017.11:81906759:G:T
                                  Gene:
                                  PCYT2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Clinical significance:
                                  pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000016/4 (GnomAD_exomes)
                                  T=0.000021/3 (GnomAD)
                                  A=0.000025/3 (ExAC)
                                  A=0.000212/4 (TOMMO)
                                  A=0.001092/2 (Korea1K)
                                  A=0.001369/4 (KOREAN)
                                  HGVS:
                                  NC_000017.11:g.81906760G>A, NC_000017.11:g.81906760G>T, NC_000017.10:g.79864636G>A, NC_000017.10:g.79864636G>T, XM_005256386.5:c.634C>T, XM_005256386.5:c.634C>A, XM_005256386.4:c.634C>T, XM_005256386.4:c.634C>A, XM_005256386.3:c.634C>T, XM_005256386.3:c.634C>A, XM_005256386.2:c.634C>T, XM_005256386.2:c.634C>A, XM_005256386.1:c.634C>T, XM_005256386.1:c.634C>A, NM_002861.5:c.676C>T, NM_002861.5:c.676C>A, NM_002861.4:c.676C>T, NM_002861.4:c.676C>A, NM_002861.3:c.676C>T, NM_002861.3:c.676C>A, XM_006722287.5:c.730C>T, XM_006722287.5:c.730C>A, XM_006722287.4:c.730C>T, XM_006722287.4:c.730C>A, XM_006722287.3:c.730C>T, XM_006722287.3:c.730C>A, XM_006722287.2:c.730C>T, XM_006722287.2:c.730C>A, XM_006722287.1:c.730C>T, XM_006722287.1:c.730C>A, XM_005256387.4:c.634C>T, XM_005256387.4:c.634C>A, XM_005256387.3:c.634C>T, XM_005256387.3:c.634C>A, XM_005256387.2:c.634C>T, XM_005256387.2:c.634C>A, XM_005256387.1:c.634C>T, XM_005256387.1:c.634C>A, NM_001256435.3:c.442C>T, NM_001256435.3:c.442C>A, NM_001256435.2:c.442C>T, NM_001256435.2:c.442C>A, NM_001256435.1:c.442C>T, NM_001256435.1:c.442C>A, NM_001184917.3:c.730C>T, NM_001184917.3:c.730C>A, NM_001184917.2:c.730C>T, NM_001184917.2:c.730C>A, NM_001184917.1:c.730C>T, NM_001184917.1:c.730C>A, NM_001256434.3:c.553C>T, NM_001256434.3:c.553C>A, NM_001256434.2:c.553C>T, NM_001256434.2:c.553C>A, NM_001256434.1:c.553C>T, NM_001256434.1:c.553C>A, NM_001256433.3:c.514C>T, NM_001256433.3:c.514C>A, NM_001256433.2:c.514C>T, NM_001256433.2:c.514C>A, NM_001256433.1:c.514C>T, NM_001256433.1:c.514C>A, NM_001282203.2:c.442C>T, NM_001282203.2:c.442C>A, NM_001282203.1:c.442C>T, NM_001282203.1:c.442C>A, NM_001282204.2:c.580C>T, NM_001282204.2:c.580C>A, NM_001282204.1:c.580C>T, NM_001282204.1:c.580C>A, NM_001330518.2:c.676C>T, NM_001330518.2:c.676C>A, NM_001330518.1:c.676C>T, NM_001330518.1:c.676C>A, NR_033683.1:n.1172C>T, NR_033683.1:n.1172C>A, NR_033682.1:n.1069C>T, NR_033682.1:n.1069C>A, NR_033685.1:n.888C>T, NR_033685.1:n.888C>A, NR_033681.1:n.837C>T, NR_033681.1:n.837C>A, XP_005256443.1:p.His212Tyr, XP_005256443.1:p.His212Asn, NP_002852.1:p.His226Tyr, NP_002852.1:p.His226Asn, XP_006722350.1:p.His244Tyr, XP_006722350.1:p.His244Asn, XP_005256444.1:p.His212Tyr, XP_005256444.1:p.His212Asn, NP_001243364.1:p.His148Tyr, NP_001243364.1:p.His148Asn, NP_001171846.1:p.His244Tyr, NP_001171846.1:p.His244Asn, NP_001243363.1:p.His185Tyr, NP_001243363.1:p.His185Asn, NP_001243362.1:p.His172Tyr, NP_001243362.1:p.His172Asn, NP_001269132.1:p.His148Tyr, NP_001269132.1:p.His148Asn, NP_001269133.1:p.His194Tyr, NP_001269133.1:p.His194Asn, NP_001317447.1:p.His226Tyr, NP_001317447.1:p.His226Asn

                                  17.

                                  rs1204173741 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:81905707 (GRCh38)
                                    17:79863583 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:81905706:G:A
                                    Gene:
                                    PCYT2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    pathogenic,uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000066/1 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    A=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000017.11:g.81905707G>A, NC_000017.10:g.79863583G>A, XM_005256386.5:c.824C>T, XM_005256386.4:c.824C>T, XM_005256386.3:c.824C>T, XM_005256386.2:c.824C>T, XM_005256386.1:c.824C>T, NM_002861.5:c.866C>T, NM_002861.4:c.866C>T, NM_002861.3:c.866C>T, XM_006722287.5:c.920C>T, XM_006722287.4:c.920C>T, XM_006722287.3:c.920C>T, XM_006722287.2:c.920C>T, XM_006722287.1:c.920C>T, XM_005256387.4:c.824C>T, XM_005256387.3:c.824C>T, XM_005256387.2:c.824C>T, XM_005256387.1:c.824C>T, NM_001256435.3:c.632C>T, NM_001256435.2:c.632C>T, NM_001256435.1:c.632C>T, NM_001184917.3:c.920C>T, NM_001184917.2:c.920C>T, NM_001184917.1:c.920C>T, NM_001256434.3:c.743C>T, NM_001256434.2:c.743C>T, NM_001256434.1:c.743C>T, NM_001256433.3:c.704C>T, NM_001256433.2:c.704C>T, NM_001256433.1:c.704C>T, NM_001282203.2:c.632C>T, NM_001282203.1:c.632C>T, NM_001282204.2:c.770C>T, NM_001282204.1:c.770C>T, NM_001330518.2:c.866C>T, NM_001330518.1:c.866C>T, NR_033683.1:n.1362C>T, NR_033682.1:n.1259C>T, NR_033685.1:n.1078C>T, NR_033681.1:n.1027C>T, XP_005256443.1:p.Pro275Leu, NP_002852.1:p.Pro289Leu, XP_006722350.1:p.Pro307Leu, XP_005256444.1:p.Pro275Leu, NP_001243364.1:p.Pro211Leu, NP_001171846.1:p.Pro307Leu, NP_001243363.1:p.Pro248Leu, NP_001243362.1:p.Pro235Leu, NP_001269132.1:p.Pro211Leu, NP_001269133.1:p.Pro257Leu, NP_001317447.1:p.Pro289Leu

                                    18.

                                    rs55874260 has merged into rs2230472 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:81906878 (GRCh38)
                                      17:79864754 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:81906877:G:A
                                      Gene:
                                      PCYT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.006808/390 (ALFA)
                                      A=0.005155/1291 (GnomAD_exomes)
                                      A=0.006062/724 (ExAC)
                                      A=0.009259/2 (Qatari)
                                      A=0.021612/281 (GoESP)
                                      A=0.02184/3063 (GnomAD)
                                      A=0.02192/5802 (TOPMED)
                                      A=0.025141/126 (1000Genomes)
                                      A=0.074684/59 (HapMap)
                                      G=0.5/3 (SGDP_PRJ)
                                      HGVS:
                                      NC_000017.11:g.81906878G>A, NC_000017.10:g.79864754G>A, XM_005256386.5:c.516C>T, XM_005256386.4:c.516C>T, XM_005256386.3:c.516C>T, XM_005256386.2:c.516C>T, XM_005256386.1:c.516C>T, NM_002861.5:c.558C>T, NM_002861.4:c.558C>T, NM_002861.3:c.558C>T, XM_006722287.5:c.612C>T, XM_006722287.4:c.612C>T, XM_006722287.3:c.612C>T, XM_006722287.2:c.612C>T, XM_006722287.1:c.612C>T, XM_005256387.4:c.516C>T, XM_005256387.3:c.516C>T, XM_005256387.2:c.516C>T, XM_005256387.1:c.516C>T, NM_001256435.3:c.324C>T, NM_001256435.2:c.324C>T, NM_001256435.1:c.324C>T, NM_001184917.3:c.612C>T, NM_001184917.2:c.612C>T, NM_001184917.1:c.612C>T, NM_001256434.3:c.435C>T, NM_001256434.2:c.435C>T, NM_001256434.1:c.435C>T, NM_001256433.3:c.396C>T, NM_001256433.2:c.396C>T, NM_001256433.1:c.396C>T, NM_001282203.2:c.324C>T, NM_001282203.1:c.324C>T, NM_001282204.2:c.462C>T, NM_001282204.1:c.462C>T, NM_001330518.2:c.558C>T, NM_001330518.1:c.558C>T, NR_033683.1:n.1054C>T, NR_033682.1:n.951C>T, NR_033685.1:n.770C>T, NR_033681.1:n.719C>T

                                      19.

                                      rs571182313 has merged into rs2230474 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        17:81904728 (GRCh38)
                                        17:79862604 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:81904727:C:G,NC_000017.11:81904727:C:T
                                        Gene:
                                        PCYT2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000396/6 (ALFA)
                                        G=0./0 (ALSPAC)
                                        G=0.00027/1 (TWINSUK)
                                        G=0.009259/2 (Qatari)
                                        G=0.023008/6090 (TOPMED)
                                        G=0.027171/136 (1000Genomes)
                                        C=0.5/6 (SGDP_PRJ)
                                        HGVS:
                                        NC_000017.11:g.81904728C>G, NC_000017.11:g.81904728C>T, NC_000017.10:g.79862604C>G, NC_000017.10:g.79862604C>T, XM_005256386.5:c.*105G>C, XM_005256386.5:c.*105G>A, XM_005256386.4:c.*105G>C, XM_005256386.4:c.*105G>A, XM_005256386.3:c.*105G>C, XM_005256386.3:c.*105G>A, XM_005256386.2:c.*105G>C, XM_005256386.2:c.*105G>A, XM_005256386.1:c.*105G>C, XM_005256386.1:c.*105G>A, NM_002861.5:c.*105G>C, NM_002861.5:c.*105G>A, NM_002861.4:c.*105G>C, NM_002861.4:c.*105G>A, NM_002861.3:c.*105G>C, NM_002861.3:c.*105G>A, XM_006722287.5:c.*105G>C, XM_006722287.5:c.*105G>A, XM_006722287.4:c.*105G>C, XM_006722287.4:c.*105G>A, XM_006722287.3:c.*105G>C, XM_006722287.3:c.*105G>A, XM_006722287.2:c.*105G>C, XM_006722287.2:c.*105G>A, XM_006722287.1:c.*105G>C, XM_006722287.1:c.*105G>A, XM_005256387.4:c.*105G>C, XM_005256387.4:c.*105G>A, XM_005256387.3:c.*105G>C, XM_005256387.3:c.*105G>A, XM_005256387.2:c.*105G>C, XM_005256387.2:c.*105G>A, XM_005256387.1:c.*105G>C, XM_005256387.1:c.*105G>A, NM_001256435.3:c.*105G>C, NM_001256435.3:c.*105G>A, NM_001256435.2:c.*105G>C, NM_001256435.2:c.*105G>A, NM_001256435.1:c.*105G>C, NM_001256435.1:c.*105G>A, NM_001184917.3:c.*105G>C, NM_001184917.3:c.*105G>A, NM_001184917.2:c.*105G>C, NM_001184917.2:c.*105G>A, NM_001184917.1:c.*105G>C, NM_001184917.1:c.*105G>A, NM_001256434.3:c.*105G>C, NM_001256434.3:c.*105G>A, NM_001256434.2:c.*105G>C, NM_001256434.2:c.*105G>A, NM_001256434.1:c.*105G>C, NM_001256434.1:c.*105G>A, NM_001256433.3:c.*105G>C, NM_001256433.3:c.*105G>A, NM_001256433.2:c.*105G>C, NM_001256433.2:c.*105G>A, NM_001256433.1:c.*105G>C, NM_001256433.1:c.*105G>A, NM_001282203.2:c.*105G>C, NM_001282203.2:c.*105G>A, NM_001282203.1:c.*105G>C, NM_001282203.1:c.*105G>A, NM_001282204.2:c.*105G>C, NM_001282204.2:c.*105G>A, NM_001282204.1:c.*105G>C, NM_001282204.1:c.*105G>A, NM_001330518.2:c.*105G>C, NM_001330518.2:c.*105G>A, NM_001330518.1:c.*105G>C, NM_001330518.1:c.*105G>A, NR_033683.1:n.1771G>C, NR_033683.1:n.1771G>A, NR_033682.1:n.1668G>C, NR_033682.1:n.1668G>A, NR_033685.1:n.1487G>C, NR_033685.1:n.1487G>A, NR_033681.1:n.1436G>C, NR_033681.1:n.1436G>A

                                        20.

                                        rs55687697 has merged into rs2230474 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          17:81904728 (GRCh38)
                                          17:79862604 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:81904727:C:G,NC_000017.11:81904727:C:T
                                          Gene:
                                          PCYT2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Clinical significance:
                                          benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000396/6 (ALFA)
                                          G=0./0 (ALSPAC)
                                          G=0.00027/1 (TWINSUK)
                                          G=0.009259/2 (Qatari)
                                          G=0.023008/6090 (TOPMED)
                                          G=0.027171/136 (1000Genomes)
                                          C=0.5/6 (SGDP_PRJ)
                                          HGVS:
                                          NC_000017.11:g.81904728C>G, NC_000017.11:g.81904728C>T, NC_000017.10:g.79862604C>G, NC_000017.10:g.79862604C>T, XM_005256386.5:c.*105G>C, XM_005256386.5:c.*105G>A, XM_005256386.4:c.*105G>C, XM_005256386.4:c.*105G>A, XM_005256386.3:c.*105G>C, XM_005256386.3:c.*105G>A, XM_005256386.2:c.*105G>C, XM_005256386.2:c.*105G>A, XM_005256386.1:c.*105G>C, XM_005256386.1:c.*105G>A, NM_002861.5:c.*105G>C, NM_002861.5:c.*105G>A, NM_002861.4:c.*105G>C, NM_002861.4:c.*105G>A, NM_002861.3:c.*105G>C, NM_002861.3:c.*105G>A, XM_006722287.5:c.*105G>C, XM_006722287.5:c.*105G>A, XM_006722287.4:c.*105G>C, XM_006722287.4:c.*105G>A, XM_006722287.3:c.*105G>C, XM_006722287.3:c.*105G>A, XM_006722287.2:c.*105G>C, XM_006722287.2:c.*105G>A, XM_006722287.1:c.*105G>C, XM_006722287.1:c.*105G>A, XM_005256387.4:c.*105G>C, XM_005256387.4:c.*105G>A, XM_005256387.3:c.*105G>C, XM_005256387.3:c.*105G>A, XM_005256387.2:c.*105G>C, XM_005256387.2:c.*105G>A, XM_005256387.1:c.*105G>C, XM_005256387.1:c.*105G>A, NM_001256435.3:c.*105G>C, NM_001256435.3:c.*105G>A, NM_001256435.2:c.*105G>C, NM_001256435.2:c.*105G>A, NM_001256435.1:c.*105G>C, NM_001256435.1:c.*105G>A, NM_001184917.3:c.*105G>C, NM_001184917.3:c.*105G>A, NM_001184917.2:c.*105G>C, NM_001184917.2:c.*105G>A, NM_001184917.1:c.*105G>C, NM_001184917.1:c.*105G>A, NM_001256434.3:c.*105G>C, NM_001256434.3:c.*105G>A, NM_001256434.2:c.*105G>C, NM_001256434.2:c.*105G>A, NM_001256434.1:c.*105G>C, NM_001256434.1:c.*105G>A, NM_001256433.3:c.*105G>C, NM_001256433.3:c.*105G>A, NM_001256433.2:c.*105G>C, NM_001256433.2:c.*105G>A, NM_001256433.1:c.*105G>C, NM_001256433.1:c.*105G>A, NM_001282203.2:c.*105G>C, NM_001282203.2:c.*105G>A, NM_001282203.1:c.*105G>C, NM_001282203.1:c.*105G>A, NM_001282204.2:c.*105G>C, NM_001282204.2:c.*105G>A, NM_001282204.1:c.*105G>C, NM_001282204.1:c.*105G>A, NM_001330518.2:c.*105G>C, NM_001330518.2:c.*105G>A, NM_001330518.1:c.*105G>C, NM_001330518.1:c.*105G>A, NR_033683.1:n.1771G>C, NR_033683.1:n.1771G>A, NR_033682.1:n.1668G>C, NR_033682.1:n.1668G>A, NR_033685.1:n.1487G>C, NR_033685.1:n.1487G>A, NR_033681.1:n.1436G>C, NR_033681.1:n.1436G>A

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