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Items: 1 to 20 of 150

1.

rs1451520068 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    X:154412105 (GRCh38)
    X:153640442 (GRCh37)
    Canonical SPDI:
    NC_000023.11:154412104:C:A,NC_000023.11:154412104:C:G
    Gene:
    DNASE1L1 (Varview), TAFAZZIN (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.154412105C>A, NC_000023.11:g.154412105C>G, NW_003871103.3:g.1846084C>A, NW_003871103.3:g.1846084C>G, NG_012884.2:g.4984G>T, NG_012884.2:g.4984G>C, NG_009634.2:g.5571C>A, NG_009634.2:g.5571C>G, NM_000116.5:c.129C>A, NM_000116.5:c.129C>G, NM_000116.4:c.129C>A, NM_000116.4:c.129C>G, NM_000116.3:c.129C>A, NM_000116.3:c.129C>G, NM_181312.4:c.129C>A, NM_181312.4:c.129C>G, NM_181312.3:c.129C>A, NM_181312.3:c.129C>G, NM_181312.2:c.129C>A, NM_181312.2:c.129C>G, NM_181311.4:c.129C>A, NM_181311.4:c.129C>G, NM_181311.3:c.129C>A, NM_181311.3:c.129C>G, NM_181311.2:c.129C>A, NM_181311.2:c.129C>G, NM_181313.4:c.129C>A, NM_181313.4:c.129C>G, NM_181313.3:c.129C>A, NM_181313.3:c.129C>G, NM_181313.2:c.129C>A, NM_181313.2:c.129C>G, NR_024048.3:n.434C>A, NR_024048.3:n.434C>G, NR_024048.2:n.455C>A, NR_024048.2:n.455C>G, NR_024048.1:n.433C>A, NR_024048.1:n.433C>G, NM_001303465.2:c.183C>A, NM_001303465.2:c.183C>G, NM_001303465.1:c.183C>A, NM_001303465.1:c.183C>G, NM_001410698.1:c.183C>A, NM_001410698.1:c.183C>G, NC_000023.10:g.153640442C>A, NC_000023.10:g.153640442C>G, XM_006724836.2:c.183C>A, XM_006724836.2:c.183C>G, XM_006724836.1:c.183C>A, XM_006724836.1:c.183C>G, XM_006724837.2:c.183C>A, XM_006724837.2:c.183C>G, XM_006724837.1:c.183C>A, XM_006724837.1:c.183C>G, XM_017029761.2:c.129C>A, XM_017029761.2:c.129C>G, XM_017029761.1:c.129C>A, XM_017029761.1:c.129C>G, XM_017029762.2:c.183C>A, XM_017029762.2:c.183C>G, XM_006724839.2:c.183C>A, XM_006724839.2:c.183C>G, XM_006724839.1:c.183C>A, XM_006724839.1:c.183C>G, XM_011531189.2:c.183C>A, XM_011531189.2:c.183C>G, XM_011531189.1:c.183C>A, XM_011531189.1:c.183C>G, XM_017029763.2:c.129C>A, XM_017029763.2:c.129C>G, XM_017029763.1:c.129C>A, XM_017029763.1:c.129C>G, NM_181314.1:c.129C>A, NM_181314.1:c.129C>G

    2.

    rs1428383700 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      X:154414182 (GRCh38)
      X:153642519 (GRCh37)
      Canonical SPDI:
      NC_000023.11:154414181:G:C
      Gene:
      TAFAZZIN (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1415483027 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:154420692 (GRCh38)
        X:153649031 (GRCh37)
        Canonical SPDI:
        NC_000023.11:154420691:C:T
        Gene:
        TAFAZZIN (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000023.11:g.154420692C>T, NW_003871103.3:g.1854671C>T, NG_009634.2:g.14158C>T, NM_000116.5:c.734C>T, NM_000116.4:c.734C>T, NM_000116.3:c.734C>T, NM_181312.4:c.692C>T, NM_181312.3:c.692C>T, NM_181312.2:c.692C>T, NM_181311.4:c.644C>T, NM_181311.3:c.644C>T, NM_181311.2:c.644C>T, NM_181313.4:c.602C>T, NM_181313.3:c.602C>T, NM_181313.2:c.602C>T, NR_024048.3:n.1055C>T, NR_024048.2:n.1076C>T, NR_024048.1:n.1054C>T, NM_001303465.2:c.746C>T, NM_001303465.1:c.746C>T, NM_001410698.1:c.698C>T, NC_000023.10:g.153649031C>T, XM_011531191.3:c.458C>T, XM_011531191.2:c.458C>T, XM_011531191.1:c.458C>T, XM_006724836.2:c.788C>T, XM_006724836.1:c.788C>T, XM_006724837.2:c.773C>T, XM_006724837.1:c.773C>T, XM_017029761.2:c.719C>T, XM_017029761.1:c.719C>T, XM_017029762.2:c.698C>T, XM_006724839.2:c.656C>T, XM_006724839.1:c.656C>T, XM_011531189.2:c.575C>T, XM_011531189.1:c.575C>T, XM_017029763.2:c.521C>T, XM_017029763.1:c.521C>T, XM_017029764.2:c.455C>T, XM_017029764.1:c.455C>T, XM_047442407.1:c.527C>T, XM_047442408.1:c.437C>T, NM_181314.1:c.*462C>T, NP_000107.1:p.Ala245Val, NP_851829.1:p.Ala231Val, NP_851828.1:p.Ala215Val, NP_851830.1:p.Ala201Val, NP_001290394.1:p.Ala249Val, XP_011529493.1:p.Ala153Val, XP_006724899.1:p.Ala263Val, XP_006724900.1:p.Ala258Val, XP_016885250.1:p.Ala240Val, XP_016885251.1:p.Ala233Val, XP_006724902.1:p.Ala219Val, XP_011529491.1:p.Ala192Val, XP_016885252.1:p.Ala174Val, XP_016885253.1:p.Ala152Val, XP_047298363.1:p.Ala176Val, XP_047298364.1:p.Ala146Val

        4.

        rs1388894701 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:154412135 (GRCh38)
          X:153640472 (GRCh37)
          Canonical SPDI:
          NC_000023.11:154412134:C:T
          Gene:
          DNASE1L1 (Varview), TAFAZZIN (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000023.11:g.154412135C>T, NW_003871103.3:g.1846114C>T, NG_012884.2:g.4954G>A, NG_009634.2:g.5601C>T, NM_000116.5:c.159C>T, NM_000116.4:c.159C>T, NM_000116.3:c.159C>T, NM_181312.4:c.159C>T, NM_181312.3:c.159C>T, NM_181312.2:c.159C>T, NM_181311.4:c.159C>T, NM_181311.3:c.159C>T, NM_181311.2:c.159C>T, NM_181313.4:c.159C>T, NM_181313.3:c.159C>T, NM_181313.2:c.159C>T, NR_024048.3:n.464C>T, NR_024048.2:n.485C>T, NR_024048.1:n.463C>T, NM_001303465.2:c.213C>T, NM_001303465.1:c.213C>T, NM_001410698.1:c.213C>T, NC_000023.10:g.153640472C>T, XM_006724836.2:c.213C>T, XM_006724836.1:c.213C>T, XM_006724837.2:c.213C>T, XM_006724837.1:c.213C>T, XM_017029761.2:c.159C>T, XM_017029761.1:c.159C>T, XM_017029762.2:c.213C>T, XM_006724839.2:c.213C>T, XM_006724839.1:c.213C>T, XM_011531189.2:c.213C>T, XM_011531189.1:c.213C>T, XM_017029763.2:c.159C>T, XM_017029763.1:c.159C>T, NM_181314.1:c.159C>T

          5.

          rs1371436693 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:154420253 (GRCh38)
            X:153648592 (GRCh37)
            Canonical SPDI:
            NC_000023.11:154420252:C:T
            Gene:
            TAFAZZIN (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000023.11:g.154420253C>T, NW_003871103.3:g.1854232C>T, NG_009634.2:g.13719C>T, NM_000116.5:c.688C>T, NM_000116.4:c.688C>T, NM_000116.3:c.688C>T, NM_181312.4:c.646C>T, NM_181312.3:c.646C>T, NM_181312.2:c.646C>T, NM_181311.4:c.598C>T, NM_181311.3:c.598C>T, NM_181311.2:c.598C>T, NM_181313.4:c.556C>T, NM_181313.3:c.556C>T, NM_181313.2:c.556C>T, NR_024048.3:n.1009C>T, NR_024048.2:n.1030C>T, NR_024048.1:n.1008C>T, NM_001303465.2:c.700C>T, NM_001303465.1:c.700C>T, NM_001410698.1:c.652C>T, NC_000023.10:g.153648592C>T, XM_011531191.3:c.412C>T, XM_011531191.2:c.412C>T, XM_011531191.1:c.412C>T, XM_006724836.2:c.742C>T, XM_006724836.1:c.742C>T, XM_006724837.2:c.727C>T, XM_006724837.1:c.727C>T, XM_017029761.2:c.673C>T, XM_017029761.1:c.673C>T, XM_017029762.2:c.652C>T, XM_006724839.2:c.610C>T, XM_006724839.1:c.610C>T, XM_011531189.2:c.529C>T, XM_011531189.1:c.529C>T, XM_017029763.2:c.475C>T, XM_017029763.1:c.475C>T, XM_017029764.2:c.409C>T, XM_017029764.1:c.409C>T, XM_047442407.1:c.481C>T, XM_047442408.1:c.391C>T, NM_181314.1:c.*416C>T, NP_000107.1:p.Arg230Cys, NP_851829.1:p.Arg216Cys, NP_851828.1:p.Arg200Cys, NP_851830.1:p.Arg186Cys, NP_001290394.1:p.Arg234Cys, XP_011529493.1:p.Arg138Cys, XP_006724899.1:p.Arg248Cys, XP_006724900.1:p.Arg243Cys, XP_016885250.1:p.Arg225Cys, XP_016885251.1:p.Arg218Cys, XP_006724902.1:p.Arg204Cys, XP_011529491.1:p.Arg177Cys, XP_016885252.1:p.Arg159Cys, XP_016885253.1:p.Arg137Cys, XP_047298363.1:p.Arg161Cys, XP_047298364.1:p.Arg131Cys

            6.

            rs1369377122 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:154419742 (GRCh38)
              X:153648081 (GRCh37)
              Canonical SPDI:
              NC_000023.11:154419741:G:A
              Gene:
              TAFAZZIN (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.00001/1 (GnomAD)
              HGVS:

              7.

              rs1361004251 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                X:154414108 (GRCh38)
                X:153642445 (GRCh37)
                Canonical SPDI:
                NC_000023.11:154414107:A:T
                Gene:
                TAFAZZIN (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.00002/2 (GnomAD)
                HGVS:

                8.

                rs1330473123 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:154419734 (GRCh38)
                  X:153648073 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:154419733:C:T
                  Gene:
                  TAFAZZIN (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000005/1 (GnomAD_exomes)
                  T=0.00001/1 (GnomAD)
                  HGVS:
                  NC_000023.11:g.154419734C>T, NW_003871103.3:g.1853713C>T, NG_009634.2:g.13200C>T, NM_000116.5:c.571C>T, NM_000116.4:c.571C>T, NM_000116.3:c.571C>T, NM_181311.4:c.481C>T, NM_181311.3:c.481C>T, NM_181311.2:c.481C>T, NR_024048.3:n.892C>T, NR_024048.2:n.913C>T, NR_024048.1:n.891C>T, NM_001410698.1:c.535C>T, NC_000023.10:g.153648073C>T, XM_011531191.3:c.295C>T, XM_011531191.2:c.295C>T, XM_011531191.1:c.295C>T, XM_006724836.2:c.625C>T, XM_006724836.1:c.625C>T, XM_017029762.2:c.535C>T, XM_017029764.2:c.292C>T, XM_017029764.1:c.292C>T, XM_047442407.1:c.364C>T, XM_047442408.1:c.274C>T, NM_181314.1:c.*299C>T, NP_000107.1:p.Arg191Cys, NP_851828.1:p.Arg161Cys, XP_011529493.1:p.Arg99Cys, XP_006724899.1:p.Arg209Cys, XP_016885251.1:p.Arg179Cys, XP_016885253.1:p.Arg98Cys, XP_047298363.1:p.Arg122Cys, XP_047298364.1:p.Arg92Cys

                  9.

                  rs1327665804 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    X:154411898 (GRCh38)
                    X:153640235 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:154411897:C:A,NC_000023.11:154411897:C:T
                    Gene:
                    DNASE1L1 (Varview), TAFAZZIN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.00001/1 (GnomAD)
                    HGVS:
                    NC_000023.11:g.154411898C>A, NC_000023.11:g.154411898C>T, NW_003871103.3:g.1845877C>A, NW_003871103.3:g.1845877C>T, NG_012884.2:g.5191G>T, NG_012884.2:g.5191G>A, NM_001009932.3:c.-438G>T, NM_001009932.3:c.-438G>A, NM_001009932.2:c.-438G>T, NM_001009932.2:c.-438G>A, NM_001009932.1:c.-438G>T, NM_001009932.1:c.-438G>A, NM_001009933.3:c.-180G>T, NM_001009933.3:c.-180G>A, NM_001009933.2:c.-180G>T, NM_001009933.2:c.-180G>A, NM_001009933.1:c.-180G>T, NM_001009933.1:c.-180G>A, NM_001009934.3:c.-95G>T, NM_001009934.3:c.-95G>A, NM_001009934.2:c.-95G>T, NM_001009934.2:c.-95G>A, NM_001009934.1:c.-95G>T, NM_001009934.1:c.-95G>A, NG_009634.2:g.5364C>A, NG_009634.2:g.5364C>T, NM_000116.5:c.55C>A, NM_000116.5:c.55C>T, NM_000116.4:c.55C>A, NM_000116.4:c.55C>T, NM_000116.3:c.55C>A, NM_000116.3:c.55C>T, NM_181312.4:c.55C>A, NM_181312.4:c.55C>T, NM_181312.3:c.55C>A, NM_181312.3:c.55C>T, NM_181312.2:c.55C>A, NM_181312.2:c.55C>T, NM_181311.4:c.55C>A, NM_181311.4:c.55C>T, NM_181311.3:c.55C>A, NM_181311.3:c.55C>T, NM_181311.2:c.55C>A, NM_181311.2:c.55C>T, NM_181313.4:c.55C>A, NM_181313.4:c.55C>T, NM_181313.3:c.55C>A, NM_181313.3:c.55C>T, NM_181313.2:c.55C>A, NM_181313.2:c.55C>T, NR_024048.3:n.360C>A, NR_024048.3:n.360C>T, NR_024048.2:n.381C>A, NR_024048.2:n.381C>T, NR_024048.1:n.359C>A, NR_024048.1:n.359C>T, NM_001303465.2:c.55C>A, NM_001303465.2:c.55C>T, NM_001303465.1:c.55C>A, NM_001303465.1:c.55C>T, NM_001410698.1:c.55C>A, NM_001410698.1:c.55C>T, NC_000023.10:g.153640235C>A, NC_000023.10:g.153640235C>T, XM_005277829.5:c.-576G>T, XM_005277829.5:c.-576G>A, XM_005277829.4:c.-576G>T, XM_005277829.4:c.-576G>A, XM_005277829.3:c.-576G>T, XM_005277829.3:c.-576G>A, XM_005277829.1:c.-576G>T, XM_005277829.1:c.-576G>A, XM_017029332.2:c.-1634G>T, XM_017029332.2:c.-1634G>A, XM_017029332.1:c.-1634G>T, XM_017029332.1:c.-1634G>A, XM_006724836.2:c.55C>A, XM_006724836.2:c.55C>T, XM_006724836.1:c.55C>A, XM_006724836.1:c.55C>T, XM_006724837.2:c.55C>A, XM_006724837.2:c.55C>T, XM_006724837.1:c.55C>A, XM_006724837.1:c.55C>T, XM_017029761.2:c.55C>A, XM_017029761.2:c.55C>T, XM_017029761.1:c.55C>A, XM_017029761.1:c.55C>T, XM_017029762.2:c.55C>A, XM_017029762.2:c.55C>T, XM_006724839.2:c.55C>A, XM_006724839.2:c.55C>T, XM_006724839.1:c.55C>A, XM_006724839.1:c.55C>T, XM_011531189.2:c.55C>A, XM_011531189.2:c.55C>T, XM_011531189.1:c.55C>A, XM_011531189.1:c.55C>T, XM_017029763.2:c.55C>A, XM_017029763.2:c.55C>T, XM_017029763.1:c.55C>A, XM_017029763.1:c.55C>T, XM_047441893.1:c.-2188G>T, XM_047441893.1:c.-2188G>A, XM_047441892.1:c.-992G>T, XM_047441892.1:c.-992G>A, XR_007068182.1:n.204G>T, XR_007068182.1:n.204G>A, XM_047441890.1:c.-816G>T, XM_047441890.1:c.-816G>A, XM_047441891.1:c.-678G>T, XM_047441891.1:c.-678G>A, NM_181314.1:c.55C>A, NM_181314.1:c.55C>T, NP_000107.1:p.Leu19Met, NP_851829.1:p.Leu19Met, NP_851828.1:p.Leu19Met, NP_851830.1:p.Leu19Met, NP_001290394.1:p.Leu19Met, XP_006724899.1:p.Leu19Met, XP_006724900.1:p.Leu19Met, XP_016885250.1:p.Leu19Met, XP_016885251.1:p.Leu19Met, XP_006724902.1:p.Leu19Met, XP_011529491.1:p.Leu19Met, XP_016885252.1:p.Leu19Met

                    10.

                    rs1327039693 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      X:154420996 (GRCh38)
                      X:153649335 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:154420995:G:T
                      Gene:
                      TAFAZZIN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000023.11:g.154420996G>T, NW_003871103.3:g.1854975G>T, NG_009634.2:g.14462G>T, NM_000116.5:c.871G>T, NM_000116.4:c.871G>T, NM_000116.3:c.871G>T, NM_181312.4:c.829G>T, NM_181312.3:c.829G>T, NM_181312.2:c.829G>T, NM_181311.4:c.781G>T, NM_181311.3:c.781G>T, NM_181311.2:c.781G>T, NM_181313.4:c.739G>T, NM_181313.3:c.739G>T, NM_181313.2:c.739G>T, NR_024048.3:n.1192G>T, NR_024048.2:n.1213G>T, NR_024048.1:n.1191G>T, NM_001303465.2:c.883G>T, NM_001303465.1:c.883G>T, NM_001410698.1:c.835G>T, NC_000023.10:g.153649335G>T, XM_011531191.3:c.595G>T, XM_011531191.2:c.595G>T, XM_011531191.1:c.595G>T, XM_006724836.2:c.925G>T, XM_006724836.1:c.925G>T, XM_006724837.2:c.910G>T, XM_006724837.1:c.910G>T, XM_017029761.2:c.856G>T, XM_017029761.1:c.856G>T, XM_017029762.2:c.835G>T, XM_006724839.2:c.793G>T, XM_006724839.1:c.793G>T, XM_011531189.2:c.712G>T, XM_011531189.1:c.712G>T, XM_017029763.2:c.658G>T, XM_017029763.1:c.658G>T, XM_017029764.2:c.592G>T, XM_017029764.1:c.592G>T, XM_047442407.1:c.664G>T, XM_047442408.1:c.574G>T, NM_181314.1:c.*599G>T, NP_000107.1:p.Gly291Trp, NP_851829.1:p.Gly277Trp, NP_851828.1:p.Gly261Trp, NP_851830.1:p.Gly247Trp, NP_001290394.1:p.Gly295Trp, XP_011529493.1:p.Gly199Trp, XP_006724899.1:p.Gly309Trp, XP_006724900.1:p.Gly304Trp, XP_016885250.1:p.Gly286Trp, XP_016885251.1:p.Gly279Trp, XP_006724902.1:p.Gly265Trp, XP_011529491.1:p.Gly238Trp, XP_016885252.1:p.Gly220Trp, XP_016885253.1:p.Gly198Trp, XP_047298363.1:p.Gly222Trp, XP_047298364.1:p.Gly192Trp

                      11.

                      rs1322365208 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        X:154412166 (GRCh38)
                        X:153640503 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:154412165:A:C,NC_000023.11:154412165:A:G
                        Gene:
                        DNASE1L1 (Varview), TAFAZZIN (Varview)
                        Functional Consequence:
                        coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.00001/1 (GnomAD)
                        HGVS:
                        NC_000023.11:g.154412166A>C, NC_000023.11:g.154412166A>G, NW_003871103.3:g.1846145A>C, NW_003871103.3:g.1846145A>G, NG_012884.2:g.4923T>G, NG_012884.2:g.4923T>C, NG_009634.2:g.5632A>C, NG_009634.2:g.5632A>G, NM_000116.5:c.190A>C, NM_000116.5:c.190A>G, NM_000116.4:c.190A>C, NM_000116.4:c.190A>G, NM_000116.3:c.190A>C, NM_000116.3:c.190A>G, NM_181312.4:c.190A>C, NM_181312.4:c.190A>G, NM_181312.3:c.190A>C, NM_181312.3:c.190A>G, NM_181312.2:c.190A>C, NM_181312.2:c.190A>G, NM_181311.4:c.190A>C, NM_181311.4:c.190A>G, NM_181311.3:c.190A>C, NM_181311.3:c.190A>G, NM_181311.2:c.190A>C, NM_181311.2:c.190A>G, NM_181313.4:c.190A>C, NM_181313.4:c.190A>G, NM_181313.3:c.190A>C, NM_181313.3:c.190A>G, NM_181313.2:c.190A>C, NM_181313.2:c.190A>G, NR_024048.3:n.495A>C, NR_024048.3:n.495A>G, NR_024048.2:n.516A>C, NR_024048.2:n.516A>G, NR_024048.1:n.494A>C, NR_024048.1:n.494A>G, NM_001303465.2:c.244A>C, NM_001303465.2:c.244A>G, NM_001303465.1:c.244A>C, NM_001303465.1:c.244A>G, NM_001410698.1:c.244A>C, NM_001410698.1:c.244A>G, NC_000023.10:g.153640503A>C, NC_000023.10:g.153640503A>G, XM_006724836.2:c.244A>C, XM_006724836.2:c.244A>G, XM_006724836.1:c.244A>C, XM_006724836.1:c.244A>G, XM_006724837.2:c.244A>C, XM_006724837.2:c.244A>G, XM_006724837.1:c.244A>C, XM_006724837.1:c.244A>G, XM_017029761.2:c.190A>C, XM_017029761.2:c.190A>G, XM_017029761.1:c.190A>C, XM_017029761.1:c.190A>G, XM_017029762.2:c.244A>C, XM_017029762.2:c.244A>G, XM_006724839.2:c.244A>C, XM_006724839.2:c.244A>G, XM_006724839.1:c.244A>C, XM_006724839.1:c.244A>G, XM_011531189.2:c.244A>C, XM_011531189.2:c.244A>G, XM_011531189.1:c.244A>C, XM_011531189.1:c.244A>G, XM_017029763.2:c.190A>C, XM_017029763.2:c.190A>G, XM_017029763.1:c.190A>C, XM_017029763.1:c.190A>G, NM_181314.1:c.190A>C, NM_181314.1:c.190A>G, NP_000107.1:p.Ile64Leu, NP_000107.1:p.Ile64Val, NP_851829.1:p.Ile64Leu, NP_851829.1:p.Ile64Val, NP_851828.1:p.Ile64Leu, NP_851828.1:p.Ile64Val, NP_851830.1:p.Ile64Leu, NP_851830.1:p.Ile64Val, NP_001290394.1:p.Ile82Leu, NP_001290394.1:p.Ile82Val, XP_006724899.1:p.Ile82Leu, XP_006724899.1:p.Ile82Val, XP_006724900.1:p.Ile82Leu, XP_006724900.1:p.Ile82Val, XP_016885250.1:p.Ile64Leu, XP_016885250.1:p.Ile64Val, XP_016885251.1:p.Ile82Leu, XP_016885251.1:p.Ile82Val, XP_006724902.1:p.Ile82Leu, XP_006724902.1:p.Ile82Val, XP_011529491.1:p.Ile82Leu, XP_011529491.1:p.Ile82Val, XP_016885252.1:p.Ile64Leu, XP_016885252.1:p.Ile64Val

                        12.

                        rs1298362744 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          X:154420936 (GRCh38)
                          X:153649275 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:154420935:C:G,NC_000023.11:154420935:C:T
                          Gene:
                          TAFAZZIN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,stop_gained,non_coding_transcript_variant
                          Clinical significance:
                          conflicting-interpretations-of-pathogenicity
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          NC_000023.11:g.154420936C>G, NC_000023.11:g.154420936C>T, NW_003871103.3:g.1854915C>G, NW_003871103.3:g.1854915C>T, NG_009634.2:g.14402C>G, NG_009634.2:g.14402C>T, NM_000116.5:c.811C>G, NM_000116.5:c.811C>T, NM_000116.4:c.811C>G, NM_000116.4:c.811C>T, NM_000116.3:c.811C>G, NM_000116.3:c.811C>T, NM_181312.4:c.769C>G, NM_181312.4:c.769C>T, NM_181312.3:c.769C>G, NM_181312.3:c.769C>T, NM_181312.2:c.769C>G, NM_181312.2:c.769C>T, NM_181311.4:c.721C>G, NM_181311.4:c.721C>T, NM_181311.3:c.721C>G, NM_181311.3:c.721C>T, NM_181311.2:c.721C>G, NM_181311.2:c.721C>T, NM_181313.4:c.679C>G, NM_181313.4:c.679C>T, NM_181313.3:c.679C>G, NM_181313.3:c.679C>T, NM_181313.2:c.679C>G, NM_181313.2:c.679C>T, NR_024048.3:n.1132C>G, NR_024048.3:n.1132C>T, NR_024048.2:n.1153C>G, NR_024048.2:n.1153C>T, NR_024048.1:n.1131C>G, NR_024048.1:n.1131C>T, NM_001303465.2:c.823C>G, NM_001303465.2:c.823C>T, NM_001303465.1:c.823C>G, NM_001303465.1:c.823C>T, NM_001410698.1:c.775C>G, NM_001410698.1:c.775C>T, NC_000023.10:g.153649275C>G, NC_000023.10:g.153649275C>T, XM_011531191.3:c.535C>G, XM_011531191.3:c.535C>T, XM_011531191.2:c.535C>G, XM_011531191.2:c.535C>T, XM_011531191.1:c.535C>G, XM_011531191.1:c.535C>T, XM_006724836.2:c.865C>G, XM_006724836.2:c.865C>T, XM_006724836.1:c.865C>G, XM_006724836.1:c.865C>T, XM_006724837.2:c.850C>G, XM_006724837.2:c.850C>T, XM_006724837.1:c.850C>G, XM_006724837.1:c.850C>T, XM_017029761.2:c.796C>G, XM_017029761.2:c.796C>T, XM_017029761.1:c.796C>G, XM_017029761.1:c.796C>T, XM_017029762.2:c.775C>G, XM_017029762.2:c.775C>T, XM_006724839.2:c.733C>G, XM_006724839.2:c.733C>T, XM_006724839.1:c.733C>G, XM_006724839.1:c.733C>T, XM_011531189.2:c.652C>G, XM_011531189.2:c.652C>T, XM_011531189.1:c.652C>G, XM_011531189.1:c.652C>T, XM_017029763.2:c.598C>G, XM_017029763.2:c.598C>T, XM_017029763.1:c.598C>G, XM_017029763.1:c.598C>T, XM_017029764.2:c.532C>G, XM_017029764.2:c.532C>T, XM_017029764.1:c.532C>G, XM_017029764.1:c.532C>T, XM_047442407.1:c.604C>G, XM_047442407.1:c.604C>T, XM_047442408.1:c.514C>G, XM_047442408.1:c.514C>T, NM_181314.1:c.*539C>G, NM_181314.1:c.*539C>T, NP_000107.1:p.Gln271Glu, NP_000107.1:p.Gln271Ter, NP_851829.1:p.Gln257Glu, NP_851829.1:p.Gln257Ter, NP_851828.1:p.Gln241Glu, NP_851828.1:p.Gln241Ter, NP_851830.1:p.Gln227Glu, NP_851830.1:p.Gln227Ter, NP_001290394.1:p.Gln275Glu, NP_001290394.1:p.Gln275Ter, XP_011529493.1:p.Gln179Glu, XP_011529493.1:p.Gln179Ter, XP_006724899.1:p.Gln289Glu, XP_006724899.1:p.Gln289Ter, XP_006724900.1:p.Gln284Glu, XP_006724900.1:p.Gln284Ter, XP_016885250.1:p.Gln266Glu, XP_016885250.1:p.Gln266Ter, XP_016885251.1:p.Gln259Glu, XP_016885251.1:p.Gln259Ter, XP_006724902.1:p.Gln245Glu, XP_006724902.1:p.Gln245Ter, XP_011529491.1:p.Gln218Glu, XP_011529491.1:p.Gln218Ter, XP_016885252.1:p.Gln200Glu, XP_016885252.1:p.Gln200Ter, XP_016885253.1:p.Gln178Glu, XP_016885253.1:p.Gln178Ter, XP_047298363.1:p.Gln202Glu, XP_047298363.1:p.Gln202Ter, XP_047298364.1:p.Gln172Glu, XP_047298364.1:p.Gln172Ter

                          13.

                          rs1290553565 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:154411888 (GRCh38)
                            X:153640225 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:154411887:C:T
                            Gene:
                            DNASE1L1 (Varview), TAFAZZIN (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000006/1 (GnomAD_exomes)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000023.11:g.154411888C>T, NW_003871103.3:g.1845867C>T, NG_012884.2:g.5201G>A, NG_009634.2:g.5354C>T, NM_000116.5:c.45C>T, NM_000116.4:c.45C>T, NM_000116.3:c.45C>T, NM_181312.4:c.45C>T, NM_181312.3:c.45C>T, NM_181312.2:c.45C>T, NM_181311.4:c.45C>T, NM_181311.3:c.45C>T, NM_181311.2:c.45C>T, NM_181313.4:c.45C>T, NM_181313.3:c.45C>T, NM_181313.2:c.45C>T, NR_024048.3:n.350C>T, NR_024048.2:n.371C>T, NR_024048.1:n.349C>T, NM_001303465.2:c.45C>T, NM_001303465.1:c.45C>T, NM_001410698.1:c.45C>T, NC_000023.10:g.153640225C>T, XM_006724836.2:c.45C>T, XM_006724836.1:c.45C>T, XM_006724837.2:c.45C>T, XM_006724837.1:c.45C>T, XM_017029761.2:c.45C>T, XM_017029761.1:c.45C>T, XM_017029762.2:c.45C>T, XM_006724839.2:c.45C>T, XM_006724839.1:c.45C>T, XM_011531189.2:c.45C>T, XM_011531189.1:c.45C>T, XM_017029763.2:c.45C>T, XM_017029763.1:c.45C>T, NM_181314.1:c.45C>T

                            14.

                            rs1283141584 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:154420069 (GRCh38)
                              X:153648408 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:154420068:C:T
                              Gene:
                              TAFAZZIN (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000023.11:g.154420069C>T, NW_003871103.3:g.1854048C>T, NG_009634.2:g.13535C>T, NM_000116.5:c.621C>T, NM_000116.4:c.621C>T, NM_000116.3:c.621C>T, NM_181312.4:c.579C>T, NM_181312.3:c.579C>T, NM_181312.2:c.579C>T, NM_181311.4:c.531C>T, NM_181311.3:c.531C>T, NM_181311.2:c.531C>T, NM_181313.4:c.489C>T, NM_181313.3:c.489C>T, NM_181313.2:c.489C>T, NR_024048.3:n.942C>T, NR_024048.2:n.963C>T, NR_024048.1:n.941C>T, NM_001303465.2:c.633C>T, NM_001303465.1:c.633C>T, NM_001410698.1:c.585C>T, NC_000023.10:g.153648408C>T, XM_011531191.3:c.345C>T, XM_011531191.2:c.345C>T, XM_011531191.1:c.345C>T, XM_006724836.2:c.675C>T, XM_006724836.1:c.675C>T, XM_006724837.2:c.543C>T, XM_006724837.1:c.543C>T, XM_017029761.2:c.489C>T, XM_017029761.1:c.489C>T, XM_017029762.2:c.585C>T, XM_006724839.2:c.543C>T, XM_006724839.1:c.543C>T, XM_011531189.2:c.462C>T, XM_011531189.1:c.462C>T, XM_017029763.2:c.408C>T, XM_017029763.1:c.408C>T, XM_017029764.2:c.342C>T, XM_017029764.1:c.342C>T, XM_047442407.1:c.414C>T, XM_047442408.1:c.324C>T, NM_181314.1:c.*349C>T

                              15.

                              rs1281729528 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:154413531 (GRCh38)
                                X:153641868 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:154413530:T:C
                                Gene:
                                DNASE1L1 (Varview), TAFAZZIN (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000023.11:g.154413531T>C, NW_003871103.3:g.1847510T>C, NG_012884.2:g.3558A>G, NG_009634.2:g.6997T>C, NM_000116.5:c.334T>C, NM_000116.4:c.334T>C, NM_000116.3:c.334T>C, NM_181312.4:c.334T>C, NM_181312.3:c.334T>C, NM_181312.2:c.334T>C, NM_181311.4:c.334T>C, NM_181311.3:c.334T>C, NM_181311.2:c.334T>C, NM_181313.4:c.334T>C, NM_181313.3:c.334T>C, NM_181313.2:c.334T>C, NR_024048.3:n.745T>C, NR_024048.2:n.766T>C, NR_024048.1:n.744T>C, NM_001303465.2:c.388T>C, NM_001303465.1:c.388T>C, NM_001410698.1:c.388T>C, NC_000023.10:g.153641868T>C, XM_011531191.3:c.58T>C, XM_011531191.2:c.58T>C, XM_011531191.1:c.58T>C, XM_006724836.2:c.388T>C, XM_006724836.1:c.388T>C, XM_006724837.2:c.388T>C, XM_006724837.1:c.388T>C, XM_017029761.2:c.334T>C, XM_017029761.1:c.334T>C, XM_017029762.2:c.388T>C, XM_006724839.2:c.388T>C, XM_006724839.1:c.388T>C, XM_011531189.2:c.388T>C, XM_011531189.1:c.388T>C, XM_017029763.2:c.334T>C, XM_017029763.1:c.334T>C, XM_017029764.2:c.55T>C, XM_017029764.1:c.55T>C, XM_047442407.1:c.127T>C, XM_047442408.1:c.127T>C, NM_181314.1:c.*152T>C, NP_000107.1:p.Phe112Leu, NP_851829.1:p.Phe112Leu, NP_851828.1:p.Phe112Leu, NP_851830.1:p.Phe112Leu, NP_001290394.1:p.Phe130Leu, XP_011529493.1:p.Phe20Leu, XP_006724899.1:p.Phe130Leu, XP_006724900.1:p.Phe130Leu, XP_016885250.1:p.Phe112Leu, XP_016885251.1:p.Phe130Leu, XP_006724902.1:p.Phe130Leu, XP_011529491.1:p.Phe130Leu, XP_016885252.1:p.Phe112Leu, XP_016885253.1:p.Phe19Leu, XP_047298363.1:p.Phe43Leu, XP_047298364.1:p.Phe43Leu

                                16.

                                rs1250977043 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:154413512 (GRCh38)
                                  X:153641849 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:154413511:C:T
                                  Gene:
                                  DNASE1L1 (Varview), TAFAZZIN (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.154413512C>T, NW_003871103.3:g.1847491C>T, NG_012884.2:g.3577G>A, NG_009634.2:g.6978C>T, NM_000116.5:c.315C>T, NM_000116.4:c.315C>T, NM_000116.3:c.315C>T, NM_181312.4:c.315C>T, NM_181312.3:c.315C>T, NM_181312.2:c.315C>T, NM_181311.4:c.315C>T, NM_181311.3:c.315C>T, NM_181311.2:c.315C>T, NM_181313.4:c.315C>T, NM_181313.3:c.315C>T, NM_181313.2:c.315C>T, NR_024048.3:n.726C>T, NR_024048.2:n.747C>T, NR_024048.1:n.725C>T, NM_001303465.2:c.369C>T, NM_001303465.1:c.369C>T, NM_001410698.1:c.369C>T, NC_000023.10:g.153641849C>T, XM_011531191.3:c.39C>T, XM_011531191.2:c.39C>T, XM_011531191.1:c.39C>T, XM_006724836.2:c.369C>T, XM_006724836.1:c.369C>T, XM_006724837.2:c.369C>T, XM_006724837.1:c.369C>T, XM_017029761.2:c.315C>T, XM_017029761.1:c.315C>T, XM_017029762.2:c.369C>T, XM_006724839.2:c.369C>T, XM_006724839.1:c.369C>T, XM_011531189.2:c.369C>T, XM_011531189.1:c.369C>T, XM_017029763.2:c.315C>T, XM_017029763.1:c.315C>T, XM_017029764.2:c.36C>T, XM_017029764.1:c.36C>T, XM_047442407.1:c.108C>T, XM_047442408.1:c.108C>T, NM_181314.1:c.*133C>T

                                  17.

                                  rs1244180977 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    X:154420920 (GRCh38)
                                    X:153649259 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:154420919:C:A
                                    Gene:
                                    TAFAZZIN (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.154420920C>A, NW_003871103.3:g.1854899C>A, NG_009634.2:g.14386C>A, NM_000116.5:c.795C>A, NM_000116.4:c.795C>A, NM_000116.3:c.795C>A, NM_181312.4:c.753C>A, NM_181312.3:c.753C>A, NM_181312.2:c.753C>A, NM_181311.4:c.705C>A, NM_181311.3:c.705C>A, NM_181311.2:c.705C>A, NM_181313.4:c.663C>A, NM_181313.3:c.663C>A, NM_181313.2:c.663C>A, NR_024048.3:n.1116C>A, NR_024048.2:n.1137C>A, NR_024048.1:n.1115C>A, NM_001303465.2:c.807C>A, NM_001303465.1:c.807C>A, NM_001410698.1:c.759C>A, NC_000023.10:g.153649259C>A, XM_011531191.3:c.519C>A, XM_011531191.2:c.519C>A, XM_011531191.1:c.519C>A, XM_006724836.2:c.849C>A, XM_006724836.1:c.849C>A, XM_006724837.2:c.834C>A, XM_006724837.1:c.834C>A, XM_017029761.2:c.780C>A, XM_017029761.1:c.780C>A, XM_017029762.2:c.759C>A, XM_006724839.2:c.717C>A, XM_006724839.1:c.717C>A, XM_011531189.2:c.636C>A, XM_011531189.1:c.636C>A, XM_017029763.2:c.582C>A, XM_017029763.1:c.582C>A, XM_017029764.2:c.516C>A, XM_017029764.1:c.516C>A, XM_047442407.1:c.588C>A, XM_047442408.1:c.498C>A, NM_181314.1:c.*523C>A

                                    18.

                                    rs1227426497 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      X:154414134 (GRCh38)
                                      X:153642471 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:154414133:A:T
                                      Gene:
                                      TAFAZZIN (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.00001/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1227132566 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        X:154411890 (GRCh38)
                                        X:153640227 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:154411889:C:G,NC_000023.11:154411889:C:T
                                        Gene:
                                        DNASE1L1 (Varview), TAFAZZIN (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,splice_donor_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.154411890C>G, NC_000023.11:g.154411890C>T, NW_003871103.3:g.1845869C>G, NW_003871103.3:g.1845869C>T, NG_012884.2:g.5199G>C, NG_012884.2:g.5199G>A, NG_009634.2:g.5356C>G, NG_009634.2:g.5356C>T, NM_000116.5:c.47C>G, NM_000116.5:c.47C>T, NM_000116.4:c.47C>G, NM_000116.4:c.47C>T, NM_000116.3:c.47C>G, NM_000116.3:c.47C>T, NM_181312.4:c.47C>G, NM_181312.4:c.47C>T, NM_181312.3:c.47C>G, NM_181312.3:c.47C>T, NM_181312.2:c.47C>G, NM_181312.2:c.47C>T, NM_181311.4:c.47C>G, NM_181311.4:c.47C>T, NM_181311.3:c.47C>G, NM_181311.3:c.47C>T, NM_181311.2:c.47C>G, NM_181311.2:c.47C>T, NM_181313.4:c.47C>G, NM_181313.4:c.47C>T, NM_181313.3:c.47C>G, NM_181313.3:c.47C>T, NM_181313.2:c.47C>G, NM_181313.2:c.47C>T, NR_024048.3:n.352C>G, NR_024048.3:n.352C>T, NR_024048.2:n.373C>G, NR_024048.2:n.373C>T, NR_024048.1:n.351C>G, NR_024048.1:n.351C>T, NM_001303465.2:c.47C>G, NM_001303465.2:c.47C>T, NM_001303465.1:c.47C>G, NM_001303465.1:c.47C>T, NM_001410698.1:c.47C>G, NM_001410698.1:c.47C>T, NC_000023.10:g.153640227C>G, NC_000023.10:g.153640227C>T, XM_006724836.2:c.47C>G, XM_006724836.2:c.47C>T, XM_006724836.1:c.47C>G, XM_006724836.1:c.47C>T, XM_006724837.2:c.47C>G, XM_006724837.2:c.47C>T, XM_006724837.1:c.47C>G, XM_006724837.1:c.47C>T, XM_017029761.2:c.47C>G, XM_017029761.2:c.47C>T, XM_017029761.1:c.47C>G, XM_017029761.1:c.47C>T, XM_017029762.2:c.47C>G, XM_017029762.2:c.47C>T, XM_006724839.2:c.47C>G, XM_006724839.2:c.47C>T, XM_006724839.1:c.47C>G, XM_006724839.1:c.47C>T, XM_011531189.2:c.47C>G, XM_011531189.2:c.47C>T, XM_011531189.1:c.47C>G, XM_011531189.1:c.47C>T, XM_017029763.2:c.47C>G, XM_017029763.2:c.47C>T, XM_017029763.1:c.47C>G, XM_017029763.1:c.47C>T, NM_181314.1:c.47C>G, NM_181314.1:c.47C>T, NP_000107.1:p.Thr16Ser, NP_000107.1:p.Thr16Ile, NP_851829.1:p.Thr16Ser, NP_851829.1:p.Thr16Ile, NP_851828.1:p.Thr16Ser, NP_851828.1:p.Thr16Ile, NP_851830.1:p.Thr16Ser, NP_851830.1:p.Thr16Ile, NP_001290394.1:p.Thr16Ser, NP_001290394.1:p.Thr16Ile, XP_006724899.1:p.Thr16Ser, XP_006724899.1:p.Thr16Ile, XP_006724900.1:p.Thr16Ser, XP_006724900.1:p.Thr16Ile, XP_016885250.1:p.Thr16Ser, XP_016885250.1:p.Thr16Ile, XP_016885251.1:p.Thr16Ser, XP_016885251.1:p.Thr16Ile, XP_006724902.1:p.Thr16Ser, XP_006724902.1:p.Thr16Ile, XP_011529491.1:p.Thr16Ser, XP_011529491.1:p.Thr16Ile, XP_016885252.1:p.Thr16Ser, XP_016885252.1:p.Thr16Ile

                                        20.

                                        rs1225297065 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:154414103 (GRCh38)
                                          X:153642440 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:154414102:G:A
                                          Gene:
                                          TAFAZZIN (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00003/8 (TOPMED)
                                          HGVS:

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