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Items: 1 to 20 of 854

1.

rs1489354486 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:41216889 (GRCh38)
    13:41791025 (GRCh37)
    Canonical SPDI:
    NC_000013.11:41216888:C:T
    Gene:
    MTRF1 (Varview), LOC101929140 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000013.11:g.41216889C>T, NC_000013.10:g.41791025C>T, NM_004294.4:c.*226G>A, NM_004294.3:c.*226G>A, NM_004294.2:c.*226G>A, XM_017020866.3:c.*226G>A, XM_017020866.2:c.*226G>A, XM_017020866.1:c.*226G>A, XM_011535315.3:c.*226G>A, XM_011535315.2:c.*226G>A, XM_011535315.1:c.*226G>A, XM_011535317.3:c.*226G>A, XM_011535317.2:c.*226G>A, XM_011535317.1:c.*226G>A, XM_024449440.2:c.*226G>A, XM_024449440.1:c.*226G>A, XM_024449441.2:c.*226G>A, XM_024449441.1:c.*226G>A, XM_024449442.2:c.*226G>A, XM_024449442.1:c.*226G>A, XM_047430789.1:c.*226G>A, XM_047430794.1:c.*226G>A, XM_047430792.1:c.*226G>A, XM_047430793.1:c.*226G>A, XM_047430790.1:c.*226G>A, XM_047430795.1:c.*226G>A, XM_047430796.1:c.*226G>A, XM_047430797.1:c.*226G>A, XM_047430791.1:c.*226G>A, XM_047430785.1:c.*226G>A, NM_001354073.1:c.*226G>A, NM_001354076.1:c.*226G>A, XM_047430798.1:c.*226G>A, NM_001354075.1:c.*226G>A, NM_001354074.1:c.*226G>A, XM_047430787.1:c.*226G>A

    2.

    rs1488178273 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      13:41263298 (GRCh38)
      13:41837434 (GRCh37)
      Canonical SPDI:
      NC_000013.11:41263297:T:A,NC_000013.11:41263297:T:C
      Gene:
      MTRF1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000013.11:g.41263298T>A, NC_000013.11:g.41263298T>C, NC_000013.10:g.41837434T>A, NC_000013.10:g.41837434T>C, XM_011535326.4:c.8A>T, XM_011535326.4:c.8A>G, XM_011535326.3:c.8A>T, XM_011535326.3:c.8A>G, XM_011535326.2:c.8A>T, XM_011535326.2:c.8A>G, XM_011535326.1:c.8A>T, XM_011535326.1:c.8A>G, XM_017020866.3:c.-896A>T, XM_017020866.3:c.-896A>G, XM_017020866.2:c.-896A>T, XM_017020866.2:c.-896A>G, XM_017020866.1:c.-896A>T, XM_017020866.1:c.-896A>G, XM_011535315.3:c.8A>T, XM_011535315.3:c.8A>G, XM_011535315.2:c.8A>T, XM_011535315.2:c.8A>G, XM_011535315.1:c.8A>T, XM_011535315.1:c.8A>G, XM_011535317.3:c.8A>T, XM_011535317.3:c.8A>G, XM_011535317.2:c.8A>T, XM_011535317.2:c.8A>G, XM_011535317.1:c.8A>T, XM_011535317.1:c.8A>G, XM_017020861.3:c.8A>T, XM_017020861.3:c.8A>G, XM_017020861.2:c.8A>T, XM_017020861.2:c.8A>G, XM_017020861.1:c.8A>T, XM_017020861.1:c.8A>G, XM_017020859.3:c.8A>T, XM_017020859.3:c.8A>G, XM_017020859.2:c.8A>T, XM_017020859.2:c.8A>G, XM_017020859.1:c.8A>T, XM_017020859.1:c.8A>G, XM_024449440.2:c.-1854A>T, XM_024449440.2:c.-1854A>G, XM_024449440.1:c.-1854A>T, XM_024449440.1:c.-1854A>G, XM_024449441.2:c.-1015A>T, XM_024449441.2:c.-1015A>G, XM_047430789.1:c.-1450A>T, XM_047430789.1:c.-1450A>G, XM_047430792.1:c.-1339A>T, XM_047430792.1:c.-1339A>G, XM_047430793.1:c.-1187A>T, XM_047430793.1:c.-1187A>G, XM_047430790.1:c.-1079A>T, XM_047430790.1:c.-1079A>G, XM_047430795.1:c.-1063A>T, XM_047430795.1:c.-1063A>G, XM_047430796.1:c.-1061A>T, XM_047430796.1:c.-1061A>G, XM_047430797.1:c.-944A>T, XM_047430797.1:c.-944A>G, XM_047430785.1:c.8A>T, XM_047430785.1:c.8A>G, NM_001354073.1:c.-286A>T, NM_001354073.1:c.-286A>G, XM_047430802.1:c.-1450A>T, XM_047430802.1:c.-1450A>G, XM_047430801.1:c.-1450A>T, XM_047430801.1:c.-1450A>G, XM_047430798.1:c.-105A>T, XM_047430798.1:c.-105A>G, XM_047430787.1:c.8A>T, XM_047430787.1:c.8A>G, XM_047430788.1:c.8A>T, XM_047430788.1:c.8A>G, XM_047430799.1:c.8A>T, XM_047430799.1:c.8A>G, XM_047430800.1:c.8A>T, XM_047430800.1:c.8A>G, XP_011533628.1:p.Asn3Ile, XP_011533628.1:p.Asn3Ser, XP_011533617.1:p.Asn3Ile, XP_011533617.1:p.Asn3Ser, XP_011533619.1:p.Asn3Ile, XP_011533619.1:p.Asn3Ser, XP_016876350.1:p.Asn3Ile, XP_016876350.1:p.Asn3Ser, XP_016876348.1:p.Asn3Ile, XP_016876348.1:p.Asn3Ser, XP_047286741.1:p.Asn3Ile, XP_047286741.1:p.Asn3Ser, XP_047286743.1:p.Asn3Ile, XP_047286743.1:p.Asn3Ser, XP_047286744.1:p.Asn3Ile, XP_047286744.1:p.Asn3Ser, XP_047286755.1:p.Asn3Ile, XP_047286755.1:p.Asn3Ser, XP_047286756.1:p.Asn3Ile, XP_047286756.1:p.Asn3Ser

      3.

      rs1487695392 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        13:41260677 (GRCh38)
        13:41834813 (GRCh37)
        Canonical SPDI:
        NC_000013.11:41260676:T:C
        Gene:
        MTRF1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000013.11:g.41260677T>C, NC_000013.10:g.41834813T>C, NM_004294.4:c.231A>G, NM_004294.3:c.231A>G, NM_004294.2:c.231A>G, XM_011535326.4:c.387A>G, XM_011535326.3:c.387A>G, XM_011535326.2:c.387A>G, XM_011535326.1:c.387A>G, XM_017020866.3:c.231A>G, XM_017020866.2:c.231A>G, XM_017020866.1:c.231A>G, XM_011535315.3:c.387A>G, XM_011535315.2:c.387A>G, XM_011535315.1:c.387A>G, XM_011535317.3:c.270A>G, XM_011535317.2:c.270A>G, XM_011535317.1:c.270A>G, XM_017020861.3:c.270A>G, XM_017020861.2:c.270A>G, XM_017020861.1:c.270A>G, XM_017020859.3:c.387A>G, XM_017020859.2:c.387A>G, XM_017020859.1:c.387A>G, XM_024449440.2:c.231A>G, XM_024449440.1:c.231A>G, XM_024449441.2:c.231A>G, XM_024449441.1:c.231A>G, XM_024449442.2:c.231A>G, XM_024449442.1:c.231A>G, XM_047430789.1:c.231A>G, XM_047430794.1:c.231A>G, XM_047430792.1:c.231A>G, XM_047430793.1:c.231A>G, XM_047430790.1:c.231A>G, XM_047430795.1:c.231A>G, XM_047430796.1:c.231A>G, XM_047430797.1:c.231A>G, XM_047430791.1:c.231A>G, XM_047430785.1:c.387A>G, NM_001354073.1:c.231A>G, NM_001354076.1:c.231A>G, XM_047430802.1:c.231A>G, XM_047430801.1:c.231A>G, XM_047430798.1:c.231A>G, NM_001354075.1:c.231A>G, NM_001354074.1:c.231A>G, XM_047430787.1:c.270A>G, XM_047430788.1:c.270A>G, XM_047430799.1:c.270A>G, XM_047430800.1:c.387A>G

        4.

        rs1486924663 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          13:41263338 (GRCh38)
          13:41837474 (GRCh37)
          Canonical SPDI:
          NC_000013.11:41263337:AAA:AA
          Gene:
          MTRF1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0./0 (ALFA)
          -=0.000008/1 (GnomAD_exomes)
          -=0.000019/5 (TOPMED)
          -=0.000021/3 (GnomAD)
          HGVS:
          NC_000013.11:g.41263340del, NC_000013.10:g.41837476del, XM_011535326.4:c.-33del, XM_011535326.3:c.-33del, XM_011535326.2:c.-33del, XM_011535326.1:c.-33del, XM_017020866.3:c.-936del, XM_017020866.2:c.-936del, XM_017020866.1:c.-936del, XM_011535315.3:c.-33del, XM_011535315.2:c.-33del, XM_011535315.1:c.-33del, XM_011535317.3:c.-33del, XM_011535317.2:c.-33del, XM_011535317.1:c.-33del, XM_017020861.3:c.-33del, XM_017020861.2:c.-33del, XM_017020861.1:c.-33del, XM_017020859.3:c.-33del, XM_017020859.2:c.-33del, XM_017020859.1:c.-33del, XM_024449440.2:c.-1894del, XM_024449440.1:c.-1894del, XM_024449441.2:c.-1055del, XM_047430789.1:c.-1490del, XM_047430792.1:c.-1379del, XM_047430793.1:c.-1227del, XM_047430790.1:c.-1119del, XM_047430795.1:c.-1103del, XM_047430796.1:c.-1101del, XM_047430797.1:c.-984del, XM_047430785.1:c.-33del, NM_001354073.1:c.-326del, XM_047430802.1:c.-1490del, XM_047430801.1:c.-1490del, XM_047430798.1:c.-145del, XM_047430787.1:c.-33del, XM_047430788.1:c.-33del, XM_047430799.1:c.-33del, XM_047430800.1:c.-33del

          5.

          rs1486425161 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TCTCTGCCGCGC [Show Flanks]
            Chromosome:
            13:41311895 (GRCh38)
            13:41886032 (GRCh37)
            Canonical SPDI:
            NC_000013.11:41311895:GCTCTCTGCCGCGC:GCTCTCTGCCGCGCTCTCTGCCGCGC
            Gene:
            MTRF1 (Varview), NAA16 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GCTCTCTGCCGCGCTCTCTGCCGCGC=0./0 (ALFA)
            GCTCTCTGCCGC=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1486123298 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:41311737 (GRCh38)
              13:41885873 (GRCh37)
              Canonical SPDI:
              NC_000013.11:41311736:C:T
              Gene:
              MTRF1 (Varview), NAA16 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1486060949 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:41240367 (GRCh38)
                13:41814503 (GRCh37)
                Canonical SPDI:
                NC_000013.11:41240366:C:T
                Gene:
                MTRF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000013.11:g.41240367C>T, NC_000013.10:g.41814503C>T, NM_004294.4:c.764G>A, NM_004294.3:c.764G>A, NM_004294.2:c.764G>A, XM_011535326.4:c.920G>A, XM_011535326.3:c.920G>A, XM_011535326.2:c.920G>A, XM_011535326.1:c.920G>A, XM_017020866.3:c.764G>A, XM_017020866.2:c.764G>A, XM_017020866.1:c.764G>A, XM_011535315.3:c.920G>A, XM_011535315.2:c.920G>A, XM_011535315.1:c.920G>A, XM_011535317.3:c.803G>A, XM_011535317.2:c.803G>A, XM_011535317.1:c.803G>A, XM_017020861.3:c.803G>A, XM_017020861.2:c.803G>A, XM_017020861.1:c.803G>A, XM_017020859.3:c.920G>A, XM_017020859.2:c.920G>A, XM_017020859.1:c.920G>A, XM_024449440.2:c.764G>A, XM_024449440.1:c.764G>A, XM_024449441.2:c.764G>A, XM_024449441.1:c.764G>A, XM_024449442.2:c.764G>A, XM_024449442.1:c.764G>A, XM_047430789.1:c.764G>A, XM_047430794.1:c.764G>A, XM_047430792.1:c.764G>A, XM_047430793.1:c.764G>A, XM_047430790.1:c.764G>A, XM_047430795.1:c.764G>A, XM_047430796.1:c.764G>A, XM_047430797.1:c.764G>A, XM_047430791.1:c.764G>A, XM_047430785.1:c.920G>A, NM_001354073.1:c.764G>A, NM_001354076.1:c.764G>A, XM_047430801.1:c.764G>A, XM_047430798.1:c.764G>A, NM_001354075.1:c.764G>A, NM_001354074.1:c.764G>A, XM_047430787.1:c.803G>A, XM_047430788.1:c.803G>A, XM_047430799.1:c.803G>A, NP_004285.2:p.Gly255Asp, XP_011533628.1:p.Gly307Asp, XP_016876355.1:p.Gly255Asp, XP_011533617.1:p.Gly307Asp, XP_011533619.1:p.Gly268Asp, XP_016876350.1:p.Gly268Asp, XP_016876348.1:p.Gly307Asp, XP_024305208.1:p.Gly255Asp, XP_024305209.1:p.Gly255Asp, XP_024305210.1:p.Gly255Asp, XP_047286745.1:p.Gly255Asp, XP_047286750.1:p.Gly255Asp, XP_047286748.1:p.Gly255Asp, XP_047286749.1:p.Gly255Asp, XP_047286746.1:p.Gly255Asp, XP_047286751.1:p.Gly255Asp, XP_047286752.1:p.Gly255Asp, XP_047286753.1:p.Gly255Asp, XP_047286747.1:p.Gly255Asp, XP_047286741.1:p.Gly307Asp, NP_001341002.1:p.Gly255Asp, NP_001341005.1:p.Gly255Asp, XP_047286757.1:p.Gly255Asp, XP_047286754.1:p.Gly255Asp, NP_001341003.1:p.Gly255Asp, XP_047286743.1:p.Gly268Asp, XP_047286744.1:p.Gly268Asp, XP_047286755.1:p.Gly268Asp

                8.

                rs1484613293 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  13:41216627 (GRCh38)
                  13:41790763 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:41216626:CCCCC:CCCC
                  Gene:
                  MTRF1 (Varview), LOC101929140 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCC=0.000142/2 (ALFA)
                  -=0.000094/25 (TOPMED)
                  -=0.000107/15 (GnomAD)
                  HGVS:
                  NC_000013.11:g.41216631del, NC_000013.10:g.41790767del, NM_004294.4:c.*488del, NM_004294.3:c.*488del, NM_004294.2:c.*488del, XM_017020866.3:c.*488del, XM_017020866.2:c.*488del, XM_017020866.1:c.*488del, XM_011535315.3:c.*488del, XM_011535315.2:c.*488del, XM_011535315.1:c.*488del, XM_011535317.3:c.*488del, XM_011535317.2:c.*488del, XM_011535317.1:c.*488del, XM_024449440.2:c.*488del, XM_024449440.1:c.*488del, XM_024449441.2:c.*488del, XM_024449441.1:c.*488del, XM_024449442.2:c.*488del, XM_024449442.1:c.*488del, XM_047430789.1:c.*488del, XM_047430794.1:c.*488del, XM_047430792.1:c.*488del, XM_047430793.1:c.*488del, XM_047430790.1:c.*488del, XM_047430795.1:c.*488del, XM_047430796.1:c.*488del, XM_047430797.1:c.*488del, XM_047430791.1:c.*488del, XM_047430785.1:c.*488del, NM_001354073.1:c.*488del, NM_001354076.1:c.*488del, XM_047430798.1:c.*488del, NM_001354075.1:c.*488del, NM_001354074.1:c.*488del, XM_047430787.1:c.*488del

                  9.

                  rs1483439819 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:41216468 (GRCh38)
                    13:41790604 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:41216467:A:G
                    Gene:
                    MTRF1 (Varview), LOC101929140 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1483348778 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      13:41262233 (GRCh38)
                      13:41836369 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:41262232:G:A,NC_000013.11:41262232:G:C
                      Gene:
                      MTRF1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,stop_gained,missense_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      C=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000013.11:g.41262233G>A, NC_000013.11:g.41262233G>C, NC_000013.10:g.41836369G>A, NC_000013.10:g.41836369G>C, XM_011535326.4:c.130C>T, XM_011535326.4:c.130C>G, XM_011535326.3:c.130C>T, XM_011535326.3:c.130C>G, XM_011535326.2:c.130C>T, XM_011535326.2:c.130C>G, XM_011535326.1:c.130C>T, XM_011535326.1:c.130C>G, XM_011535315.3:c.130C>T, XM_011535315.3:c.130C>G, XM_011535315.2:c.130C>T, XM_011535315.2:c.130C>G, XM_011535315.1:c.130C>T, XM_011535315.1:c.130C>G, XM_017020859.3:c.130C>T, XM_017020859.3:c.130C>G, XM_017020859.2:c.130C>T, XM_017020859.2:c.130C>G, XM_017020859.1:c.130C>T, XM_017020859.1:c.130C>G, XM_024449440.2:c.-937C>T, XM_024449440.2:c.-937C>G, XM_024449440.1:c.-937C>T, XM_024449440.1:c.-937C>G, XM_047430789.1:c.-1326C>T, XM_047430789.1:c.-1326C>G, XM_047430794.1:c.-1326C>T, XM_047430794.1:c.-1326C>G, XM_047430792.1:c.-422C>T, XM_047430792.1:c.-422C>G, XM_047430793.1:c.-270C>T, XM_047430793.1:c.-270C>G, XM_047430790.1:c.-162C>T, XM_047430790.1:c.-162C>G, XM_047430795.1:c.-937C>T, XM_047430795.1:c.-937C>G, XM_047430796.1:c.-937C>T, XM_047430796.1:c.-937C>G, XM_047430785.1:c.130C>T, XM_047430785.1:c.130C>G, NM_001354073.1:c.-162C>T, NM_001354073.1:c.-162C>G, NM_001354076.1:c.-270C>T, NM_001354076.1:c.-270C>G, XM_047430802.1:c.-1326C>T, XM_047430802.1:c.-1326C>G, XM_047430801.1:c.-1326C>T, XM_047430801.1:c.-1326C>G, XM_047430800.1:c.130C>T, XM_047430800.1:c.130C>G, XP_011533628.1:p.Arg44Ter, XP_011533628.1:p.Arg44Gly, XP_011533617.1:p.Arg44Ter, XP_011533617.1:p.Arg44Gly, XP_016876348.1:p.Arg44Ter, XP_016876348.1:p.Arg44Gly, XP_047286741.1:p.Arg44Ter, XP_047286741.1:p.Arg44Gly, XP_047286756.1:p.Arg44Ter, XP_047286756.1:p.Arg44Gly

                      11.

                      rs1483335037 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        13:41223347 (GRCh38)
                        13:41797483 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:41223346:G:A
                        Gene:
                        MTRF1 (Varview), LOC101929140 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.41223347G>A, NC_000013.10:g.41797483G>A, NM_004294.4:c.1133C>T, NM_004294.3:c.1133C>T, NM_004294.2:c.1133C>T, XM_017020866.3:c.1133C>T, XM_017020866.2:c.1133C>T, XM_017020866.1:c.1133C>T, XM_011535315.3:c.1289C>T, XM_011535315.2:c.1289C>T, XM_011535315.1:c.1289C>T, XM_011535317.3:c.1172C>T, XM_011535317.2:c.1172C>T, XM_011535317.1:c.1172C>T, XM_017020861.3:c.1172C>T, XM_017020861.2:c.1172C>T, XM_017020861.1:c.1172C>T, XM_017020859.3:c.1289C>T, XM_017020859.2:c.1289C>T, XM_017020859.1:c.1289C>T, XM_024449440.2:c.1133C>T, XM_024449440.1:c.1133C>T, XM_024449441.2:c.1133C>T, XM_024449441.1:c.1133C>T, XM_024449442.2:c.1133C>T, XM_024449442.1:c.1133C>T, XM_047430789.1:c.1133C>T, XM_047430794.1:c.1133C>T, XM_047430792.1:c.1133C>T, XM_047430793.1:c.1133C>T, XM_047430790.1:c.1133C>T, XM_047430795.1:c.1133C>T, XM_047430796.1:c.1133C>T, XM_047430797.1:c.1133C>T, XM_047430791.1:c.1133C>T, XM_047430785.1:c.1289C>T, NM_001354073.1:c.1133C>T, NM_001354076.1:c.1133C>T, XM_047430798.1:c.1133C>T, NM_001354075.1:c.1133C>T, NM_001354074.1:c.1133C>T, XM_047430787.1:c.1172C>T, XM_047430788.1:c.1172C>T, NP_004285.2:p.Thr378Ile, XP_016876355.1:p.Thr378Ile, XP_011533617.1:p.Thr430Ile, XP_011533619.1:p.Thr391Ile, XP_016876350.1:p.Thr391Ile, XP_016876348.1:p.Thr430Ile, XP_024305208.1:p.Thr378Ile, XP_024305209.1:p.Thr378Ile, XP_024305210.1:p.Thr378Ile, XP_047286745.1:p.Thr378Ile, XP_047286750.1:p.Thr378Ile, XP_047286748.1:p.Thr378Ile, XP_047286749.1:p.Thr378Ile, XP_047286746.1:p.Thr378Ile, XP_047286751.1:p.Thr378Ile, XP_047286752.1:p.Thr378Ile, XP_047286753.1:p.Thr378Ile, XP_047286747.1:p.Thr378Ile, XP_047286741.1:p.Thr430Ile, NP_001341002.1:p.Thr378Ile, NP_001341005.1:p.Thr378Ile, XP_047286754.1:p.Thr378Ile, NP_001341003.1:p.Thr378Ile, XP_047286743.1:p.Thr391Ile, XP_047286744.1:p.Thr391Ile

                        12.

                        rs1482523247 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:41264469 (GRCh38)
                          13:41838605 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:41264468:C:T
                          Gene:
                          MTRF1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000019/5 (TOPMED)
                          HGVS:

                          13.

                          rs1482350578 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:41217175 (GRCh38)
                            13:41791311 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:41217174:T:C
                            Gene:
                            MTRF1 (Varview), LOC101929140 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000094/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            C=0.000023/6 (TOPMED)
                            HGVS:
                            NC_000013.11:g.41217175T>C, NC_000013.10:g.41791311T>C, NM_004294.4:c.1278A>G, NM_004294.3:c.1278A>G, NM_004294.2:c.1278A>G, XM_017020866.3:c.1278A>G, XM_017020866.2:c.1278A>G, XM_017020866.1:c.1278A>G, XM_011535315.3:c.1434A>G, XM_011535315.2:c.1434A>G, XM_011535315.1:c.1434A>G, XM_011535317.3:c.1317A>G, XM_011535317.2:c.1317A>G, XM_011535317.1:c.1317A>G, XM_024449440.2:c.1278A>G, XM_024449440.1:c.1278A>G, XM_024449441.2:c.1278A>G, XM_024449441.1:c.1278A>G, XM_024449442.2:c.1278A>G, XM_024449442.1:c.1278A>G, XM_047430789.1:c.1278A>G, XM_047430794.1:c.1278A>G, XM_047430792.1:c.1278A>G, XM_047430793.1:c.1278A>G, XM_047430790.1:c.1278A>G, XM_047430795.1:c.1278A>G, XM_047430796.1:c.1278A>G, XM_047430797.1:c.1278A>G, XM_047430791.1:c.1278A>G, XM_047430785.1:c.1434A>G, NM_001354073.1:c.1278A>G, NM_001354076.1:c.1278A>G, XM_047430798.1:c.1278A>G, NM_001354075.1:c.1278A>G, NM_001354074.1:c.1278A>G, XM_047430787.1:c.1317A>G

                            14.

                            rs1482035123 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              13:41260885 (GRCh38)
                              13:41835021 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:41260884:C:G
                              Gene:
                              MTRF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.41260885C>G, NC_000013.10:g.41835021C>G, NM_004294.4:c.23G>C, NM_004294.3:c.23G>C, NM_004294.2:c.23G>C, XM_011535326.4:c.179G>C, XM_011535326.3:c.179G>C, XM_011535326.2:c.179G>C, XM_011535326.1:c.179G>C, XM_017020866.3:c.23G>C, XM_017020866.2:c.23G>C, XM_017020866.1:c.23G>C, XM_011535315.3:c.179G>C, XM_011535315.2:c.179G>C, XM_011535315.1:c.179G>C, XM_011535317.3:c.62G>C, XM_011535317.2:c.62G>C, XM_011535317.1:c.62G>C, XM_017020861.3:c.62G>C, XM_017020861.2:c.62G>C, XM_017020861.1:c.62G>C, XM_017020859.3:c.179G>C, XM_017020859.2:c.179G>C, XM_017020859.1:c.179G>C, XM_024449440.2:c.23G>C, XM_024449440.1:c.23G>C, XM_024449441.2:c.23G>C, XM_024449441.1:c.23G>C, XM_024449442.2:c.23G>C, XM_024449442.1:c.23G>C, XM_047430789.1:c.23G>C, XM_047430794.1:c.23G>C, XM_047430792.1:c.23G>C, XM_047430793.1:c.23G>C, XM_047430790.1:c.23G>C, XM_047430795.1:c.23G>C, XM_047430796.1:c.23G>C, XM_047430797.1:c.23G>C, XM_047430791.1:c.23G>C, XM_047430785.1:c.179G>C, NM_001354073.1:c.23G>C, NM_001354076.1:c.23G>C, XM_047430802.1:c.23G>C, XM_047430801.1:c.23G>C, XM_047430798.1:c.23G>C, NM_001354075.1:c.23G>C, NM_001354074.1:c.23G>C, XM_047430787.1:c.62G>C, XM_047430788.1:c.62G>C, XM_047430799.1:c.62G>C, XM_047430800.1:c.179G>C, NP_004285.2:p.Trp8Ser, XP_011533628.1:p.Trp60Ser, XP_016876355.1:p.Trp8Ser, XP_011533617.1:p.Trp60Ser, XP_011533619.1:p.Trp21Ser, XP_016876350.1:p.Trp21Ser, XP_016876348.1:p.Trp60Ser, XP_024305208.1:p.Trp8Ser, XP_024305209.1:p.Trp8Ser, XP_024305210.1:p.Trp8Ser, XP_047286745.1:p.Trp8Ser, XP_047286750.1:p.Trp8Ser, XP_047286748.1:p.Trp8Ser, XP_047286749.1:p.Trp8Ser, XP_047286746.1:p.Trp8Ser, XP_047286751.1:p.Trp8Ser, XP_047286752.1:p.Trp8Ser, XP_047286753.1:p.Trp8Ser, XP_047286747.1:p.Trp8Ser, XP_047286741.1:p.Trp60Ser, NP_001341002.1:p.Trp8Ser, NP_001341005.1:p.Trp8Ser, XP_047286758.1:p.Trp8Ser, XP_047286757.1:p.Trp8Ser, XP_047286754.1:p.Trp8Ser, NP_001341003.1:p.Trp8Ser, XP_047286743.1:p.Trp21Ser, XP_047286744.1:p.Trp21Ser, XP_047286755.1:p.Trp21Ser, XP_047286756.1:p.Trp60Ser

                              15.

                              rs1481924796 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:41217081 (GRCh38)
                                13:41791217 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:41217080:A:G
                                Gene:
                                MTRF1 (Varview), LOC101929140 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000013.11:g.41217081A>G, NC_000013.10:g.41791217A>G, NM_004294.4:c.*34T>C, NM_004294.3:c.*34T>C, NM_004294.2:c.*34T>C, XM_017020866.3:c.*34T>C, XM_017020866.2:c.*34T>C, XM_017020866.1:c.*34T>C, XM_011535315.3:c.*34T>C, XM_011535315.2:c.*34T>C, XM_011535315.1:c.*34T>C, XM_011535317.3:c.*34T>C, XM_011535317.2:c.*34T>C, XM_011535317.1:c.*34T>C, XM_024449440.2:c.*34T>C, XM_024449440.1:c.*34T>C, XM_024449441.2:c.*34T>C, XM_024449441.1:c.*34T>C, XM_024449442.2:c.*34T>C, XM_024449442.1:c.*34T>C, XM_047430789.1:c.*34T>C, XM_047430794.1:c.*34T>C, XM_047430792.1:c.*34T>C, XM_047430793.1:c.*34T>C, XM_047430790.1:c.*34T>C, XM_047430795.1:c.*34T>C, XM_047430796.1:c.*34T>C, XM_047430797.1:c.*34T>C, XM_047430791.1:c.*34T>C, XM_047430785.1:c.*34T>C, NM_001354073.1:c.*34T>C, NM_001354076.1:c.*34T>C, XM_047430798.1:c.*34T>C, NM_001354075.1:c.*34T>C, NM_001354074.1:c.*34T>C, XM_047430787.1:c.*34T>C

                                16.

                                rs1481479605 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  13:41262320 (GRCh38)
                                  13:41836456 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:41262319:C:A
                                  Gene:
                                  MTRF1 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.01307/155 (ALFA)
                                  A=0.00368/104 (TOMMO)
                                  A=0.02844/83 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1479402390 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    13:41311944 (GRCh38)
                                    13:41886080 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:41311943:G:C,NC_000013.11:41311943:G:T
                                    Gene:
                                    MTRF1 (Varview), NAA16 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1479249108 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:41240416 (GRCh38)
                                      13:41814552 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:41240415:C:T
                                      Gene:
                                      MTRF1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.41240416C>T, NC_000013.10:g.41814552C>T, NM_004294.4:c.715G>A, NM_004294.3:c.715G>A, NM_004294.2:c.715G>A, XM_011535326.4:c.871G>A, XM_011535326.3:c.871G>A, XM_011535326.2:c.871G>A, XM_011535326.1:c.871G>A, XM_017020866.3:c.715G>A, XM_017020866.2:c.715G>A, XM_017020866.1:c.715G>A, XM_011535315.3:c.871G>A, XM_011535315.2:c.871G>A, XM_011535315.1:c.871G>A, XM_011535317.3:c.754G>A, XM_011535317.2:c.754G>A, XM_011535317.1:c.754G>A, XM_017020861.3:c.754G>A, XM_017020861.2:c.754G>A, XM_017020861.1:c.754G>A, XM_017020859.3:c.871G>A, XM_017020859.2:c.871G>A, XM_017020859.1:c.871G>A, XM_024449440.2:c.715G>A, XM_024449440.1:c.715G>A, XM_024449441.2:c.715G>A, XM_024449441.1:c.715G>A, XM_024449442.2:c.715G>A, XM_024449442.1:c.715G>A, XM_047430789.1:c.715G>A, XM_047430794.1:c.715G>A, XM_047430792.1:c.715G>A, XM_047430793.1:c.715G>A, XM_047430790.1:c.715G>A, XM_047430795.1:c.715G>A, XM_047430796.1:c.715G>A, XM_047430797.1:c.715G>A, XM_047430791.1:c.715G>A, XM_047430785.1:c.871G>A, NM_001354073.1:c.715G>A, NM_001354076.1:c.715G>A, XM_047430801.1:c.715G>A, XM_047430798.1:c.715G>A, NM_001354075.1:c.715G>A, NM_001354074.1:c.715G>A, XM_047430787.1:c.754G>A, XM_047430788.1:c.754G>A, XM_047430799.1:c.754G>A, NP_004285.2:p.Ala239Thr, XP_011533628.1:p.Ala291Thr, XP_016876355.1:p.Ala239Thr, XP_011533617.1:p.Ala291Thr, XP_011533619.1:p.Ala252Thr, XP_016876350.1:p.Ala252Thr, XP_016876348.1:p.Ala291Thr, XP_024305208.1:p.Ala239Thr, XP_024305209.1:p.Ala239Thr, XP_024305210.1:p.Ala239Thr, XP_047286745.1:p.Ala239Thr, XP_047286750.1:p.Ala239Thr, XP_047286748.1:p.Ala239Thr, XP_047286749.1:p.Ala239Thr, XP_047286746.1:p.Ala239Thr, XP_047286751.1:p.Ala239Thr, XP_047286752.1:p.Ala239Thr, XP_047286753.1:p.Ala239Thr, XP_047286747.1:p.Ala239Thr, XP_047286741.1:p.Ala291Thr, NP_001341002.1:p.Ala239Thr, NP_001341005.1:p.Ala239Thr, XP_047286757.1:p.Ala239Thr, XP_047286754.1:p.Ala239Thr, NP_001341003.1:p.Ala239Thr, XP_047286743.1:p.Ala252Thr, XP_047286744.1:p.Ala252Thr, XP_047286755.1:p.Ala252Thr

                                      19.

                                      rs1479096624 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        13:41223299 (GRCh38)
                                        13:41797435 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:41223296:CTCT:CT
                                        Gene:
                                        MTRF1 (Varview), LOC101929140 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.41223297CT[1], NC_000013.10:g.41797433CT[1], NM_004294.4:c.1182_1183del, NM_004294.3:c.1182_1183del, NM_004294.2:c.1182_1183del, XM_017020866.3:c.1182_1183del, XM_017020866.2:c.1182_1183del, XM_017020866.1:c.1182_1183del, XM_011535315.3:c.1338_1339del, XM_011535315.2:c.1338_1339del, XM_011535315.1:c.1338_1339del, XM_011535317.3:c.1221_1222del, XM_011535317.2:c.1221_1222del, XM_011535317.1:c.1221_1222del, XM_017020861.3:c.1221_1222del, XM_017020861.2:c.1221_1222del, XM_017020861.1:c.1221_1222del, XM_017020859.3:c.1338_1339del, XM_017020859.2:c.1338_1339del, XM_017020859.1:c.1338_1339del, XM_024449440.2:c.1182_1183del, XM_024449440.1:c.1182_1183del, XM_024449441.2:c.1182_1183del, XM_024449441.1:c.1182_1183del, XM_024449442.2:c.1182_1183del, XM_024449442.1:c.1182_1183del, XM_047430789.1:c.1182_1183del, XM_047430794.1:c.1182_1183del, XM_047430792.1:c.1182_1183del, XM_047430793.1:c.1182_1183del, XM_047430790.1:c.1182_1183del, XM_047430795.1:c.1182_1183del, XM_047430796.1:c.1182_1183del, XM_047430797.1:c.1182_1183del, XM_047430791.1:c.1182_1183del, XM_047430785.1:c.1338_1339del, NM_001354073.1:c.1182_1183del, NM_001354076.1:c.1182_1183del, XM_047430798.1:c.1182_1183del, NM_001354075.1:c.1182_1183del, NM_001354074.1:c.1182_1183del, XM_047430787.1:c.1221_1222del, XM_047430788.1:c.1221_1222del, NP_004285.2:p.Arg394fs, XP_016876355.1:p.Arg394fs, XP_011533617.1:p.Arg446fs, XP_011533619.1:p.Arg407fs, XP_016876350.1:p.Arg407fs, XP_016876348.1:p.Arg446fs, XP_024305208.1:p.Arg394fs, XP_024305209.1:p.Arg394fs, XP_024305210.1:p.Arg394fs, XP_047286745.1:p.Arg394fs, XP_047286750.1:p.Arg394fs, XP_047286748.1:p.Arg394fs, XP_047286749.1:p.Arg394fs, XP_047286746.1:p.Arg394fs, XP_047286751.1:p.Arg394fs, XP_047286752.1:p.Arg394fs, XP_047286753.1:p.Arg394fs, XP_047286747.1:p.Arg394fs, XP_047286741.1:p.Arg446fs, NP_001341002.1:p.Arg394fs, NP_001341005.1:p.Arg394fs, XP_047286754.1:p.Arg394fs, NP_001341003.1:p.Arg394fs, XP_047286743.1:p.Arg407fs, XP_047286744.1:p.Arg407fs

                                        20.

                                        rs1478855460 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          13:41217054 (GRCh38)
                                          13:41791190 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:41217053:G:A,NC_000013.11:41217053:G:T
                                          Gene:
                                          MTRF1 (Varview), LOC101929140 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000013.11:g.41217054G>A, NC_000013.11:g.41217054G>T, NC_000013.10:g.41791190G>A, NC_000013.10:g.41791190G>T, NM_004294.4:c.*61C>T, NM_004294.4:c.*61C>A, NM_004294.3:c.*61C>T, NM_004294.3:c.*61C>A, NM_004294.2:c.*61C>T, NM_004294.2:c.*61C>A, XM_017020866.3:c.*61C>T, XM_017020866.3:c.*61C>A, XM_017020866.2:c.*61C>T, XM_017020866.2:c.*61C>A, XM_017020866.1:c.*61C>T, XM_017020866.1:c.*61C>A, XM_011535315.3:c.*61C>T, XM_011535315.3:c.*61C>A, XM_011535315.2:c.*61C>T, XM_011535315.2:c.*61C>A, XM_011535315.1:c.*61C>T, XM_011535315.1:c.*61C>A, XM_011535317.3:c.*61C>T, XM_011535317.3:c.*61C>A, XM_011535317.2:c.*61C>T, XM_011535317.2:c.*61C>A, XM_011535317.1:c.*61C>T, XM_011535317.1:c.*61C>A, XM_024449440.2:c.*61C>T, XM_024449440.2:c.*61C>A, XM_024449440.1:c.*61C>T, XM_024449440.1:c.*61C>A, XM_024449441.2:c.*61C>T, XM_024449441.2:c.*61C>A, XM_024449441.1:c.*61C>T, XM_024449441.1:c.*61C>A, XM_024449442.2:c.*61C>T, XM_024449442.2:c.*61C>A, XM_024449442.1:c.*61C>T, XM_024449442.1:c.*61C>A, XM_047430789.1:c.*61C>T, XM_047430789.1:c.*61C>A, XM_047430794.1:c.*61C>T, XM_047430794.1:c.*61C>A, XM_047430792.1:c.*61C>T, XM_047430792.1:c.*61C>A, XM_047430793.1:c.*61C>T, XM_047430793.1:c.*61C>A, XM_047430790.1:c.*61C>T, XM_047430790.1:c.*61C>A, XM_047430795.1:c.*61C>T, XM_047430795.1:c.*61C>A, XM_047430796.1:c.*61C>T, XM_047430796.1:c.*61C>A, XM_047430797.1:c.*61C>T, XM_047430797.1:c.*61C>A, XM_047430791.1:c.*61C>T, XM_047430791.1:c.*61C>A, XM_047430785.1:c.*61C>T, XM_047430785.1:c.*61C>A, NM_001354073.1:c.*61C>T, NM_001354073.1:c.*61C>A, NM_001354076.1:c.*61C>T, NM_001354076.1:c.*61C>A, XM_047430798.1:c.*61C>T, XM_047430798.1:c.*61C>A, NM_001354075.1:c.*61C>T, NM_001354075.1:c.*61C>A, NM_001354074.1:c.*61C>T, NM_001354074.1:c.*61C>A, XM_047430787.1:c.*61C>T, XM_047430787.1:c.*61C>A

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