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Items: 1 to 20 of 657

1.

rs1489515610 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    C>- [Show Flanks]
    Chromosome:
    4:158599245 (GRCh38)
    4:159520397 (GRCh37)
    Canonical SPDI:
    NC_000004.12:158599244:C:
    Gene:
    RXFP1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000008/2 (TOPMED)
    -=0.000009/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1489078971 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      4:158628699 (GRCh38)
      4:159549851 (GRCh37)
      Canonical SPDI:
      NC_000004.12:158628698:C:A
      Gene:
      RXFP1 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.158628699C>A, NC_000004.11:g.159549851C>A, NG_031835.2:g.111986C>A, NM_021634.4:c.889C>A, NM_021634.3:c.889C>A, NR_045579.2:n.1601C>A, NR_045579.1:n.1769C>A, NM_001253732.2:c.493C>A, NM_001253732.1:c.493C>A, NM_001253727.2:c.970C>A, NM_001253727.1:c.970C>A, NR_045580.2:n.1037C>A, NR_045580.1:n.1205C>A, NR_045581.2:n.1008C>A, NR_045581.1:n.1176C>A, NM_001253733.2:c.421C>A, NM_001253733.1:c.421C>A, NR_045582.2:n.1089C>A, NR_045582.1:n.1257C>A, NR_045583.2:n.927C>A, NR_045583.1:n.1095C>A, NM_001253730.2:c.499C>A, NM_001253730.1:c.499C>A, NM_001253728.2:c.790C>A, NM_001253728.1:c.790C>A, NM_001253729.2:c.889C>A, NM_001253729.1:c.889C>A, NR_045584.2:n.1037C>A, NR_045584.1:n.1205C>A, NM_001363776.1:c.646C>A, XM_017008518.3:c.889C>A, XM_017008518.2:c.889C>A, XM_017008518.1:c.889C>A, XM_011532176.3:c.817C>A, XM_011532176.2:c.817C>A, XM_011532176.1:c.817C>A, XM_011532179.3:c.970C>A, XM_011532179.2:c.970C>A, XM_011532179.1:c.970C>A, XM_017008523.3:c.889C>A, XM_017008523.2:c.889C>A, XM_017008523.1:c.889C>A, XM_017008524.3:c.817C>A, XM_017008524.2:c.817C>A, XM_017008524.1:c.817C>A, XM_011532174.2:c.970C>A, XM_011532174.1:c.970C>A, XM_011532175.2:c.898C>A, XM_011532175.1:c.898C>A, XM_017008517.2:c.898C>A, XM_017008517.1:c.898C>A, XM_017008520.2:c.727C>A, XM_017008520.1:c.727C>A, XM_017008526.2:c.421C>A, XM_017008526.1:c.421C>A, XM_017008525.2:c.790C>A, XM_017008525.1:c.790C>A, NP_067647.2:p.Leu297Met, NP_001240661.1:p.Leu165Met, NP_001240656.1:p.Leu324Met, NP_001240662.1:p.Leu141Met, NP_001240659.1:p.Leu167Met, NP_001240657.1:p.Leu264Met, NP_001240658.1:p.Leu297Met, NP_001350705.1:p.Leu216Met, XP_016864007.1:p.Leu297Met, XP_011530478.1:p.Leu273Met, XP_011530481.1:p.Leu324Met, XP_016864012.1:p.Leu297Met, XP_016864013.1:p.Leu273Met, XP_011530476.1:p.Leu324Met, XP_011530477.1:p.Leu300Met, XP_016864006.1:p.Leu300Met, XP_016864009.1:p.Leu243Met, XP_016864015.1:p.Leu141Met, XP_016864014.1:p.Leu264Met

      3.

      rs1488526342 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        4:158572774 (GRCh38)
        4:159493926 (GRCh37)
        Canonical SPDI:
        NC_000004.12:158572773:T:A
        Gene:
        RXFP1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.158572774T>A, NC_000004.11:g.159493926T>A, NG_031835.2:g.56061T>A, NM_021634.4:c.126T>A, NM_021634.3:c.126T>A, NR_045579.2:n.910T>A, NR_045579.1:n.1078T>A, NM_001253732.2:c.-355T>A, NM_001253732.1:c.-355T>A, NM_001253727.2:c.126T>A, NM_001253727.1:c.126T>A, NR_045580.2:n.221T>A, NR_045580.1:n.389T>A, NR_045581.2:n.221T>A, NR_045581.1:n.389T>A, NM_001253733.2:c.-355T>A, NM_001253733.1:c.-355T>A, NR_045582.2:n.221T>A, NR_045582.1:n.389T>A, NM_001253730.2:c.-190T>A, NM_001253730.1:c.-190T>A, NM_001253728.2:c.126T>A, NM_001253728.1:c.126T>A, NM_001253729.2:c.126T>A, NM_001253729.1:c.126T>A, NR_045584.2:n.221T>A, NR_045584.1:n.389T>A, NM_001363776.1:c.-118T>A, XM_017008518.3:c.126T>A, XM_017008518.2:c.126T>A, XM_017008518.1:c.126T>A, XM_011532176.3:c.126T>A, XM_011532176.2:c.126T>A, XM_011532176.1:c.126T>A, XM_011532179.3:c.126T>A, XM_011532179.2:c.126T>A, XM_011532179.1:c.126T>A, XM_017008523.3:c.126T>A, XM_017008523.2:c.126T>A, XM_017008523.1:c.126T>A, XM_017008524.3:c.126T>A, XM_017008524.2:c.126T>A, XM_017008524.1:c.126T>A, XM_011532174.2:c.126T>A, XM_011532174.1:c.126T>A, XM_011532175.2:c.126T>A, XM_011532175.1:c.126T>A, XM_017008517.2:c.126T>A, XM_017008517.1:c.126T>A, XM_017008525.2:c.126T>A, XM_017008525.1:c.126T>A

        4.

        rs1483773126 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:158651894 (GRCh38)
          4:159573046 (GRCh37)
          Canonical SPDI:
          NC_000004.12:158651893:A:G
          Gene:
          RXFP1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          HGVS:
          NC_000004.12:g.158651894A>G, NC_000004.11:g.159573046A>G, NG_031835.2:g.135181A>G, NM_021634.4:c.2113A>G, NM_021634.3:c.2113A>G, NR_045579.2:n.2825A>G, NR_045579.1:n.2993A>G, NM_001253732.2:c.1717A>G, NM_001253732.1:c.1717A>G, NM_001253727.2:c.2194A>G, NM_001253727.1:c.2194A>G, NR_045580.2:n.2261A>G, NR_045580.1:n.2429A>G, NR_045581.2:n.2232A>G, NR_045581.1:n.2400A>G, NM_001253733.2:c.1645A>G, NM_001253733.1:c.1645A>G, NR_045582.2:n.2169A>G, NR_045582.1:n.2337A>G, NR_045583.2:n.2148A>G, NR_045583.1:n.2316A>G, NM_001253730.2:c.1720A>G, NM_001253730.1:c.1720A>G, NM_001253728.2:c.2014A>G, NM_001253728.1:c.2014A>G, NM_001253729.2:c.1969A>G, NM_001253729.1:c.1969A>G, NM_001363776.1:c.1870A>G, XM_017008518.3:c.2110A>G, XM_017008518.2:c.2110A>G, XM_017008518.1:c.2110A>G, XM_011532176.3:c.2041A>G, XM_011532176.2:c.2041A>G, XM_011532176.1:c.2041A>G, XM_011532179.3:c.*95A>G, XM_011532179.2:c.*95A>G, XM_011532179.1:c.*95A>G, XM_017008523.3:c.*95A>G, XM_017008523.2:c.*95A>G, XM_017008523.1:c.*95A>G, XM_017008524.3:c.*95A>G, XM_017008524.2:c.*95A>G, XM_017008524.1:c.*95A>G, XM_011532174.2:c.2191A>G, XM_011532174.1:c.2191A>G, XM_011532175.2:c.2122A>G, XM_011532175.1:c.2122A>G, XM_017008517.2:c.2119A>G, XM_017008517.1:c.2119A>G, XM_017008520.2:c.1951A>G, XM_017008520.1:c.1951A>G, XM_017008526.2:c.1645A>G, XM_017008526.1:c.1645A>G, XM_017008525.2:c.*95A>G, XM_017008525.1:c.*95A>G, NP_067647.2:p.Met705Val, NP_001240661.1:p.Met573Val, NP_001240656.1:p.Met732Val, NP_001240662.1:p.Met549Val, NP_001240659.1:p.Met574Val, NP_001240657.1:p.Met672Val, NP_001240658.1:p.Met657Val, NP_001350705.1:p.Met624Val, XP_016864007.1:p.Met704Val, XP_011530478.1:p.Met681Val, XP_011530476.1:p.Met731Val, XP_011530477.1:p.Met708Val, XP_016864006.1:p.Met707Val, XP_016864009.1:p.Met651Val, XP_016864015.1:p.Met549Val

          5.

          rs1480593487 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            4:158651885 (GRCh38)
            4:159573037 (GRCh37)
            Canonical SPDI:
            NC_000004.12:158651884:A:C,NC_000004.12:158651884:A:G
            Gene:
            RXFP1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000004.12:g.158651885A>C, NC_000004.12:g.158651885A>G, NC_000004.11:g.159573037A>C, NC_000004.11:g.159573037A>G, NG_031835.2:g.135172A>C, NG_031835.2:g.135172A>G, NM_021634.4:c.2104A>C, NM_021634.4:c.2104A>G, NM_021634.3:c.2104A>C, NM_021634.3:c.2104A>G, NR_045579.2:n.2816A>C, NR_045579.2:n.2816A>G, NR_045579.1:n.2984A>C, NR_045579.1:n.2984A>G, NM_001253732.2:c.1708A>C, NM_001253732.2:c.1708A>G, NM_001253732.1:c.1708A>C, NM_001253732.1:c.1708A>G, NM_001253727.2:c.2185A>C, NM_001253727.2:c.2185A>G, NM_001253727.1:c.2185A>C, NM_001253727.1:c.2185A>G, NR_045580.2:n.2252A>C, NR_045580.2:n.2252A>G, NR_045580.1:n.2420A>C, NR_045580.1:n.2420A>G, NR_045581.2:n.2223A>C, NR_045581.2:n.2223A>G, NR_045581.1:n.2391A>C, NR_045581.1:n.2391A>G, NM_001253733.2:c.1636A>C, NM_001253733.2:c.1636A>G, NM_001253733.1:c.1636A>C, NM_001253733.1:c.1636A>G, NR_045582.2:n.2160A>C, NR_045582.2:n.2160A>G, NR_045582.1:n.2328A>C, NR_045582.1:n.2328A>G, NR_045583.2:n.2139A>C, NR_045583.2:n.2139A>G, NR_045583.1:n.2307A>C, NR_045583.1:n.2307A>G, NM_001253730.2:c.1711A>C, NM_001253730.2:c.1711A>G, NM_001253730.1:c.1711A>C, NM_001253730.1:c.1711A>G, NM_001253728.2:c.2005A>C, NM_001253728.2:c.2005A>G, NM_001253728.1:c.2005A>C, NM_001253728.1:c.2005A>G, NM_001253729.2:c.1960A>C, NM_001253729.2:c.1960A>G, NM_001253729.1:c.1960A>C, NM_001253729.1:c.1960A>G, NM_001363776.1:c.1861A>C, NM_001363776.1:c.1861A>G, XM_017008518.3:c.2101A>C, XM_017008518.3:c.2101A>G, XM_017008518.2:c.2101A>C, XM_017008518.2:c.2101A>G, XM_017008518.1:c.2101A>C, XM_017008518.1:c.2101A>G, XM_011532176.3:c.2032A>C, XM_011532176.3:c.2032A>G, XM_011532176.2:c.2032A>C, XM_011532176.2:c.2032A>G, XM_011532176.1:c.2032A>C, XM_011532176.1:c.2032A>G, XM_011532179.3:c.*86A>C, XM_011532179.3:c.*86A>G, XM_011532179.2:c.*86A>C, XM_011532179.2:c.*86A>G, XM_011532179.1:c.*86A>C, XM_011532179.1:c.*86A>G, XM_017008523.3:c.*86A>C, XM_017008523.3:c.*86A>G, XM_017008523.2:c.*86A>C, XM_017008523.2:c.*86A>G, XM_017008523.1:c.*86A>C, XM_017008523.1:c.*86A>G, XM_017008524.3:c.*86A>C, XM_017008524.3:c.*86A>G, XM_017008524.2:c.*86A>C, XM_017008524.2:c.*86A>G, XM_017008524.1:c.*86A>C, XM_017008524.1:c.*86A>G, XM_011532174.2:c.2182A>C, XM_011532174.2:c.2182A>G, XM_011532174.1:c.2182A>C, XM_011532174.1:c.2182A>G, XM_011532175.2:c.2113A>C, XM_011532175.2:c.2113A>G, XM_011532175.1:c.2113A>C, XM_011532175.1:c.2113A>G, XM_017008517.2:c.2110A>C, XM_017008517.2:c.2110A>G, XM_017008517.1:c.2110A>C, XM_017008517.1:c.2110A>G, XM_017008520.2:c.1942A>C, XM_017008520.2:c.1942A>G, XM_017008520.1:c.1942A>C, XM_017008520.1:c.1942A>G, XM_017008526.2:c.1636A>C, XM_017008526.2:c.1636A>G, XM_017008526.1:c.1636A>C, XM_017008526.1:c.1636A>G, XM_017008525.2:c.*86A>C, XM_017008525.2:c.*86A>G, XM_017008525.1:c.*86A>C, XM_017008525.1:c.*86A>G, NP_067647.2:p.Arg702Gly, NP_001240661.1:p.Arg570Gly, NP_001240656.1:p.Arg729Gly, NP_001240662.1:p.Arg546Gly, NP_001240659.1:p.Arg571Gly, NP_001240657.1:p.Arg669Gly, NP_001240658.1:p.Arg654Gly, NP_001350705.1:p.Arg621Gly, XP_016864007.1:p.Arg701Gly, XP_011530478.1:p.Arg678Gly, XP_011530476.1:p.Arg728Gly, XP_011530477.1:p.Arg705Gly, XP_016864006.1:p.Arg704Gly, XP_016864009.1:p.Arg648Gly, XP_016864015.1:p.Arg546Gly

            6.

            rs1480417815 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              4:158645039 (GRCh38)
              4:159566191 (GRCh37)
              Canonical SPDI:
              NC_000004.12:158645038:T:G
              Gene:
              RXFP1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.158645039T>G, NC_000004.11:g.159566191T>G, NG_031835.2:g.128326T>G, NM_021634.4:c.1246T>G, NM_021634.3:c.1246T>G, NR_045579.2:n.1958T>G, NR_045579.1:n.2126T>G, NM_001253732.2:c.850T>G, NM_001253732.1:c.850T>G, NM_001253727.2:c.1327T>G, NM_001253727.1:c.1327T>G, NR_045580.2:n.1394T>G, NR_045580.1:n.1562T>G, NR_045581.2:n.1365T>G, NR_045581.1:n.1533T>G, NM_001253733.2:c.778T>G, NM_001253733.1:c.778T>G, NR_045582.2:n.1302T>G, NR_045582.1:n.1470T>G, NR_045583.2:n.1281T>G, NR_045583.1:n.1449T>G, NM_001253730.2:c.853T>G, NM_001253730.1:c.853T>G, NM_001253728.2:c.1147T>G, NM_001253728.1:c.1147T>G, NM_001253729.2:c.1102T>G, NM_001253729.1:c.1102T>G, NR_045584.2:n.1394T>G, NR_045584.1:n.1562T>G, NM_001363776.1:c.1003T>G, XM_017008518.3:c.1243T>G, XM_017008518.2:c.1243T>G, XM_017008518.1:c.1243T>G, XM_011532176.3:c.1174T>G, XM_011532176.2:c.1174T>G, XM_011532176.1:c.1174T>G, XM_011532174.2:c.1324T>G, XM_011532174.1:c.1324T>G, XM_011532175.2:c.1255T>G, XM_011532175.1:c.1255T>G, XM_017008517.2:c.1252T>G, XM_017008517.1:c.1252T>G, XM_017008520.2:c.1084T>G, XM_017008520.1:c.1084T>G, XM_017008526.2:c.778T>G, XM_017008526.1:c.778T>G, NP_067647.2:p.Ser416Ala, NP_001240661.1:p.Ser284Ala, NP_001240656.1:p.Ser443Ala, NP_001240662.1:p.Ser260Ala, NP_001240659.1:p.Ser285Ala, NP_001240657.1:p.Ser383Ala, NP_001240658.1:p.Ser368Ala, NP_001350705.1:p.Ser335Ala, XP_016864007.1:p.Ser415Ala, XP_011530478.1:p.Ser392Ala, XP_011530476.1:p.Ser442Ala, XP_011530477.1:p.Ser419Ala, XP_016864006.1:p.Ser418Ala, XP_016864009.1:p.Ser362Ala, XP_016864015.1:p.Ser260Ala

              7.

              rs1480391374 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                4:158626885 (GRCh38)
                4:159548037 (GRCh37)
                Canonical SPDI:
                NC_000004.12:158626884:C:G
                Gene:
                RXFP1 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000047/1 (ALFA)
                G=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.158626885C>G, NC_000004.11:g.159548037C>G, NG_031835.2:g.110172C>G, NM_021634.4:c.821C>G, NM_021634.3:c.821C>G, NM_001253732.2:c.425C>G, NM_001253732.1:c.425C>G, NM_001253727.2:c.902C>G, NM_001253727.1:c.902C>G, NR_045580.2:n.969C>G, NR_045580.1:n.1137C>G, NR_045581.2:n.940C>G, NR_045581.1:n.1108C>G, NR_045582.2:n.1021C>G, NR_045582.1:n.1189C>G, NR_045583.2:n.859C>G, NR_045583.1:n.1027C>G, NM_001253730.2:c.431C>G, NM_001253730.1:c.431C>G, NM_001253728.2:c.722C>G, NM_001253728.1:c.722C>G, NM_001253729.2:c.821C>G, NM_001253729.1:c.821C>G, NR_045584.2:n.969C>G, NR_045584.1:n.1137C>G, NM_001363776.1:c.578C>G, XM_017008518.3:c.821C>G, XM_017008518.2:c.821C>G, XM_017008518.1:c.821C>G, XM_011532179.3:c.902C>G, XM_011532179.2:c.902C>G, XM_011532179.1:c.902C>G, XM_017008523.3:c.821C>G, XM_017008523.2:c.821C>G, XM_017008523.1:c.821C>G, XM_011532174.2:c.902C>G, XM_011532174.1:c.902C>G, XM_017008520.2:c.659C>G, XM_017008520.1:c.659C>G, XM_017008525.2:c.722C>G, XM_017008525.1:c.722C>G, NP_067647.2:p.Thr274Ser, NP_001240661.1:p.Thr142Ser, NP_001240656.1:p.Thr301Ser, NP_001240659.1:p.Thr144Ser, NP_001240657.1:p.Thr241Ser, NP_001240658.1:p.Thr274Ser, NP_001350705.1:p.Thr193Ser, XP_016864007.1:p.Thr274Ser, XP_011530481.1:p.Thr301Ser, XP_016864012.1:p.Thr274Ser, XP_011530476.1:p.Thr301Ser, XP_016864009.1:p.Thr220Ser, XP_016864014.1:p.Thr241Ser

                8.

                rs1479232116 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  4:158645134 (GRCh38)
                  4:159566286 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:158645133:C:G,NC_000004.12:158645133:C:T
                  Gene:
                  RXFP1 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000004.12:g.158645134C>G, NC_000004.12:g.158645134C>T, NC_000004.11:g.159566286C>G, NC_000004.11:g.159566286C>T, NG_031835.2:g.128421C>G, NG_031835.2:g.128421C>T, NM_021634.4:c.1341C>G, NM_021634.4:c.1341C>T, NM_021634.3:c.1341C>G, NM_021634.3:c.1341C>T, NR_045579.2:n.2053C>G, NR_045579.2:n.2053C>T, NR_045579.1:n.2221C>G, NR_045579.1:n.2221C>T, NM_001253732.2:c.945C>G, NM_001253732.2:c.945C>T, NM_001253732.1:c.945C>G, NM_001253732.1:c.945C>T, NM_001253727.2:c.1422C>G, NM_001253727.2:c.1422C>T, NM_001253727.1:c.1422C>G, NM_001253727.1:c.1422C>T, NR_045580.2:n.1489C>G, NR_045580.2:n.1489C>T, NR_045580.1:n.1657C>G, NR_045580.1:n.1657C>T, NR_045581.2:n.1460C>G, NR_045581.2:n.1460C>T, NR_045581.1:n.1628C>G, NR_045581.1:n.1628C>T, NM_001253733.2:c.873C>G, NM_001253733.2:c.873C>T, NM_001253733.1:c.873C>G, NM_001253733.1:c.873C>T, NR_045582.2:n.1397C>G, NR_045582.2:n.1397C>T, NR_045582.1:n.1565C>G, NR_045582.1:n.1565C>T, NR_045583.2:n.1376C>G, NR_045583.2:n.1376C>T, NR_045583.1:n.1544C>G, NR_045583.1:n.1544C>T, NM_001253730.2:c.948C>G, NM_001253730.2:c.948C>T, NM_001253730.1:c.948C>G, NM_001253730.1:c.948C>T, NM_001253728.2:c.1242C>G, NM_001253728.2:c.1242C>T, NM_001253728.1:c.1242C>G, NM_001253728.1:c.1242C>T, NM_001253729.2:c.1197C>G, NM_001253729.2:c.1197C>T, NM_001253729.1:c.1197C>G, NM_001253729.1:c.1197C>T, NR_045584.2:n.1489C>G, NR_045584.2:n.1489C>T, NR_045584.1:n.1657C>G, NR_045584.1:n.1657C>T, NM_001363776.1:c.1098C>G, NM_001363776.1:c.1098C>T, XM_017008518.3:c.1338C>G, XM_017008518.3:c.1338C>T, XM_017008518.2:c.1338C>G, XM_017008518.2:c.1338C>T, XM_017008518.1:c.1338C>G, XM_017008518.1:c.1338C>T, XM_011532176.3:c.1269C>G, XM_011532176.3:c.1269C>T, XM_011532176.2:c.1269C>G, XM_011532176.2:c.1269C>T, XM_011532176.1:c.1269C>G, XM_011532176.1:c.1269C>T, XM_011532174.2:c.1419C>G, XM_011532174.2:c.1419C>T, XM_011532174.1:c.1419C>G, XM_011532174.1:c.1419C>T, XM_011532175.2:c.1350C>G, XM_011532175.2:c.1350C>T, XM_011532175.1:c.1350C>G, XM_011532175.1:c.1350C>T, XM_017008517.2:c.1347C>G, XM_017008517.2:c.1347C>T, XM_017008517.1:c.1347C>G, XM_017008517.1:c.1347C>T, XM_017008520.2:c.1179C>G, XM_017008520.2:c.1179C>T, XM_017008520.1:c.1179C>G, XM_017008520.1:c.1179C>T, XM_017008526.2:c.873C>G, XM_017008526.2:c.873C>T, XM_017008526.1:c.873C>G, XM_017008526.1:c.873C>T

                  9.

                  rs1478479314 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:158645063 (GRCh38)
                    4:159566215 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:158645062:A:C
                    Gene:
                    RXFP1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.158645063A>C, NC_000004.11:g.159566215A>C, NG_031835.2:g.128350A>C, NM_021634.4:c.1270A>C, NM_021634.3:c.1270A>C, NR_045579.2:n.1982A>C, NR_045579.1:n.2150A>C, NM_001253732.2:c.874A>C, NM_001253732.1:c.874A>C, NM_001253727.2:c.1351A>C, NM_001253727.1:c.1351A>C, NR_045580.2:n.1418A>C, NR_045580.1:n.1586A>C, NR_045581.2:n.1389A>C, NR_045581.1:n.1557A>C, NM_001253733.2:c.802A>C, NM_001253733.1:c.802A>C, NR_045582.2:n.1326A>C, NR_045582.1:n.1494A>C, NR_045583.2:n.1305A>C, NR_045583.1:n.1473A>C, NM_001253730.2:c.877A>C, NM_001253730.1:c.877A>C, NM_001253728.2:c.1171A>C, NM_001253728.1:c.1171A>C, NM_001253729.2:c.1126A>C, NM_001253729.1:c.1126A>C, NR_045584.2:n.1418A>C, NR_045584.1:n.1586A>C, NM_001363776.1:c.1027A>C, XM_017008518.3:c.1267A>C, XM_017008518.2:c.1267A>C, XM_017008518.1:c.1267A>C, XM_011532176.3:c.1198A>C, XM_011532176.2:c.1198A>C, XM_011532176.1:c.1198A>C, XM_011532174.2:c.1348A>C, XM_011532174.1:c.1348A>C, XM_011532175.2:c.1279A>C, XM_011532175.1:c.1279A>C, XM_017008517.2:c.1276A>C, XM_017008517.1:c.1276A>C, XM_017008520.2:c.1108A>C, XM_017008520.1:c.1108A>C, XM_017008526.2:c.802A>C, XM_017008526.1:c.802A>C, NP_067647.2:p.Ile424Leu, NP_001240661.1:p.Ile292Leu, NP_001240656.1:p.Ile451Leu, NP_001240662.1:p.Ile268Leu, NP_001240659.1:p.Ile293Leu, NP_001240657.1:p.Ile391Leu, NP_001240658.1:p.Ile376Leu, NP_001350705.1:p.Ile343Leu, XP_016864007.1:p.Ile423Leu, XP_011530478.1:p.Ile400Leu, XP_011530476.1:p.Ile450Leu, XP_011530477.1:p.Ile427Leu, XP_016864006.1:p.Ile426Leu, XP_016864009.1:p.Ile370Leu, XP_016864015.1:p.Ile268Leu

                    10.

                    rs1477442466 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      4:158605091 (GRCh38)
                      4:159526244 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:158605091:AAA:AAAA
                      Gene:
                      RXFP1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.158605094dup, NC_000004.11:g.159526246dup, NG_031835.2:g.88381dup, NM_021634.4:c.419dup, NM_021634.3:c.419dup, NR_045579.2:n.1203dup, NR_045579.1:n.1371dup, NM_001253732.2:c.-62dup, NM_001253732.1:c.-62dup, NM_001253727.2:c.500dup, NM_001253727.1:c.500dup, NR_045580.2:n.567dup, NR_045580.1:n.735dup, NR_045581.2:n.538dup, NR_045581.1:n.706dup, NM_001253733.2:c.-62dup, NM_001253733.1:c.-62dup, NR_045582.2:n.619dup, NR_045582.1:n.787dup, NR_045583.2:n.457dup, NR_045583.1:n.625dup, NM_001253730.2:c.29dup, NM_001253730.1:c.29dup, NM_001253728.2:c.320dup, NM_001253728.1:c.320dup, NM_001253729.2:c.419dup, NM_001253729.1:c.419dup, NR_045584.2:n.514dup, NR_045584.1:n.682dup, NM_001363776.1:c.176dup, XM_017008518.3:c.419dup, XM_017008518.2:c.419dup, XM_017008518.1:c.419dup, XM_011532176.3:c.419dup, XM_011532176.2:c.419dup, XM_011532176.1:c.419dup, XM_011532179.3:c.500dup, XM_011532179.2:c.500dup, XM_011532179.1:c.500dup, XM_017008523.3:c.419dup, XM_017008523.2:c.419dup, XM_017008523.1:c.419dup, XM_017008524.3:c.419dup, XM_017008524.2:c.419dup, XM_017008524.1:c.419dup, XM_011532174.2:c.500dup, XM_011532174.1:c.500dup, XM_011532175.2:c.500dup, XM_011532175.1:c.500dup, XM_017008517.2:c.500dup, XM_017008517.1:c.500dup, XM_017008520.2:c.257dup, XM_017008520.1:c.257dup, XM_017008525.2:c.320dup, XM_017008525.1:c.320dup, NP_067647.2:p.Leu141fs, NP_001240656.1:p.Leu168fs, NP_001240659.1:p.Leu11fs, NP_001240657.1:p.Leu108fs, NP_001240658.1:p.Leu141fs, NP_001350705.1:p.Leu60fs, XP_016864007.1:p.Leu141fs, XP_011530478.1:p.Leu141fs, XP_011530481.1:p.Leu168fs, XP_016864012.1:p.Leu141fs, XP_016864013.1:p.Leu141fs, XP_011530476.1:p.Leu168fs, XP_011530477.1:p.Leu168fs, XP_016864006.1:p.Leu168fs, XP_016864009.1:p.Leu87fs, XP_016864014.1:p.Leu108fs

                      11.

                      rs1476207327 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:158651979 (GRCh38)
                        4:159573131 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:158651978:T:C
                        Gene:
                        RXFP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000004.12:g.158651979T>C, NC_000004.11:g.159573131T>C, NG_031835.2:g.135266T>C, NM_021634.4:c.2198T>C, NM_021634.3:c.2198T>C, NR_045579.2:n.2910T>C, NR_045579.1:n.3078T>C, NM_001253732.2:c.1802T>C, NM_001253732.1:c.1802T>C, NM_001253727.2:c.2279T>C, NM_001253727.1:c.2279T>C, NR_045580.2:n.2346T>C, NR_045580.1:n.2514T>C, NR_045581.2:n.2317T>C, NR_045581.1:n.2485T>C, NM_001253733.2:c.1730T>C, NM_001253733.1:c.1730T>C, NR_045582.2:n.2254T>C, NR_045582.1:n.2422T>C, NR_045583.2:n.2233T>C, NR_045583.1:n.2401T>C, NM_001253730.2:c.1805T>C, NM_001253730.1:c.1805T>C, NM_001253728.2:c.2099T>C, NM_001253728.1:c.2099T>C, NM_001253729.2:c.2054T>C, NM_001253729.1:c.2054T>C, NM_001363776.1:c.1955T>C, XM_017008518.3:c.2195T>C, XM_017008518.2:c.2195T>C, XM_017008518.1:c.2195T>C, XM_011532176.3:c.2126T>C, XM_011532176.2:c.2126T>C, XM_011532176.1:c.2126T>C, XM_011532179.3:c.*180T>C, XM_011532179.2:c.*180T>C, XM_017008523.3:c.*180T>C, XM_017008523.2:c.*180T>C, XM_017008523.1:c.*180T>C, XM_017008524.3:c.*180T>C, XM_017008524.2:c.*180T>C, XM_017008524.1:c.*180T>C, XM_011532174.2:c.2276T>C, XM_011532174.1:c.2276T>C, XM_011532175.2:c.2207T>C, XM_011532175.1:c.2207T>C, XM_017008517.2:c.2204T>C, XM_017008517.1:c.2204T>C, XM_017008520.2:c.2036T>C, XM_017008520.1:c.2036T>C, XM_017008526.2:c.1730T>C, XM_017008526.1:c.1730T>C, XM_017008525.2:c.*180T>C, XM_017008525.1:c.*180T>C, NP_067647.2:p.Met733Thr, NP_001240661.1:p.Met601Thr, NP_001240656.1:p.Met760Thr, NP_001240662.1:p.Met577Thr, NP_001240659.1:p.Met602Thr, NP_001240657.1:p.Met700Thr, NP_001240658.1:p.Met685Thr, NP_001350705.1:p.Met652Thr, XP_016864007.1:p.Met732Thr, XP_011530478.1:p.Met709Thr, XP_011530476.1:p.Met759Thr, XP_011530477.1:p.Met736Thr, XP_016864006.1:p.Met735Thr, XP_016864009.1:p.Met679Thr, XP_016864015.1:p.Met577Thr

                        12.

                        rs1473556597 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          4:158646839 (GRCh38)
                          4:159567991 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:158646838:A:C
                          Gene:
                          RXFP1 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000004.12:g.158646839A>C, NC_000004.11:g.159567991A>C, NG_031835.2:g.130126A>C, NM_021634.4:c.1394A>C, NM_021634.3:c.1394A>C, NR_045579.2:n.2106A>C, NR_045579.1:n.2274A>C, NM_001253732.2:c.998A>C, NM_001253732.1:c.998A>C, NM_001253727.2:c.1475A>C, NM_001253727.1:c.1475A>C, NR_045580.2:n.1542A>C, NR_045580.1:n.1710A>C, NR_045581.2:n.1513A>C, NR_045581.1:n.1681A>C, NM_001253733.2:c.926A>C, NM_001253733.1:c.926A>C, NR_045582.2:n.1450A>C, NR_045582.1:n.1618A>C, NR_045583.2:n.1429A>C, NR_045583.1:n.1597A>C, NM_001253730.2:c.1001A>C, NM_001253730.1:c.1001A>C, NM_001253728.2:c.1295A>C, NM_001253728.1:c.1295A>C, NM_001253729.2:c.1250A>C, NM_001253729.1:c.1250A>C, NM_001363776.1:c.1151A>C, XM_017008518.3:c.1391A>C, XM_017008518.2:c.1391A>C, XM_017008518.1:c.1391A>C, XM_011532176.3:c.1322A>C, XM_011532176.2:c.1322A>C, XM_011532176.1:c.1322A>C, XM_011532174.2:c.1472A>C, XM_011532174.1:c.1472A>C, XM_011532175.2:c.1403A>C, XM_011532175.1:c.1403A>C, XM_017008517.2:c.1400A>C, XM_017008517.1:c.1400A>C, XM_017008520.2:c.1232A>C, XM_017008520.1:c.1232A>C, XM_017008526.2:c.926A>C, XM_017008526.1:c.926A>C, NP_067647.2:p.Asp465Ala, NP_001240661.1:p.Asp333Ala, NP_001240656.1:p.Asp492Ala, NP_001240662.1:p.Asp309Ala, NP_001240659.1:p.Asp334Ala, NP_001240657.1:p.Asp432Ala, NP_001240658.1:p.Asp417Ala, NP_001350705.1:p.Asp384Ala, XP_016864007.1:p.Asp464Ala, XP_011530478.1:p.Asp441Ala, XP_011530476.1:p.Asp491Ala, XP_011530477.1:p.Asp468Ala, XP_016864006.1:p.Asp467Ala, XP_016864009.1:p.Asp411Ala, XP_016864015.1:p.Asp309Ala

                          13.

                          rs1473119690 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            4:158647061 (GRCh38)
                            4:159568213 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:158647060:G:C
                            Gene:
                            RXFP1 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000004.12:g.158647061G>C, NC_000004.11:g.159568213G>C, NG_031835.2:g.130348G>C, NM_021634.4:c.1616G>C, NM_021634.3:c.1616G>C, NR_045579.2:n.2328G>C, NR_045579.1:n.2496G>C, NM_001253732.2:c.1220G>C, NM_001253732.1:c.1220G>C, NM_001253727.2:c.1697G>C, NM_001253727.1:c.1697G>C, NR_045580.2:n.1764G>C, NR_045580.1:n.1932G>C, NR_045581.2:n.1735G>C, NR_045581.1:n.1903G>C, NM_001253733.2:c.1148G>C, NM_001253733.1:c.1148G>C, NR_045582.2:n.1672G>C, NR_045582.1:n.1840G>C, NR_045583.2:n.1651G>C, NR_045583.1:n.1819G>C, NM_001253730.2:c.1223G>C, NM_001253730.1:c.1223G>C, NM_001253728.2:c.1517G>C, NM_001253728.1:c.1517G>C, NM_001253729.2:c.1472G>C, NM_001253729.1:c.1472G>C, NM_001363776.1:c.1373G>C, XM_017008518.3:c.1613G>C, XM_017008518.2:c.1613G>C, XM_017008518.1:c.1613G>C, XM_011532176.3:c.1544G>C, XM_011532176.2:c.1544G>C, XM_011532176.1:c.1544G>C, XM_011532174.2:c.1694G>C, XM_011532174.1:c.1694G>C, XM_011532175.2:c.1625G>C, XM_011532175.1:c.1625G>C, XM_017008517.2:c.1622G>C, XM_017008517.1:c.1622G>C, XM_017008520.2:c.1454G>C, XM_017008520.1:c.1454G>C, XM_017008526.2:c.1148G>C, XM_017008526.1:c.1148G>C, NP_067647.2:p.Gly539Ala, NP_001240661.1:p.Gly407Ala, NP_001240656.1:p.Gly566Ala, NP_001240662.1:p.Gly383Ala, NP_001240659.1:p.Gly408Ala, NP_001240657.1:p.Gly506Ala, NP_001240658.1:p.Gly491Ala, NP_001350705.1:p.Gly458Ala, XP_016864007.1:p.Gly538Ala, XP_011530478.1:p.Gly515Ala, XP_011530476.1:p.Gly565Ala, XP_011530477.1:p.Gly542Ala, XP_016864006.1:p.Gly541Ala, XP_016864009.1:p.Gly485Ala, XP_016864015.1:p.Gly383Ala

                            14.

                            rs1470309501 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:158626890 (GRCh38)
                              4:159548042 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:158626889:T:C
                              Gene:
                              RXFP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.158626890T>C, NC_000004.11:g.159548042T>C, NG_031835.2:g.110177T>C, NM_021634.4:c.826T>C, NM_021634.3:c.826T>C, NM_001253732.2:c.430T>C, NM_001253732.1:c.430T>C, NM_001253727.2:c.907T>C, NM_001253727.1:c.907T>C, NR_045580.2:n.974T>C, NR_045580.1:n.1142T>C, NR_045581.2:n.945T>C, NR_045581.1:n.1113T>C, NR_045582.2:n.1026T>C, NR_045582.1:n.1194T>C, NR_045583.2:n.864T>C, NR_045583.1:n.1032T>C, NM_001253730.2:c.436T>C, NM_001253730.1:c.436T>C, NM_001253728.2:c.727T>C, NM_001253728.1:c.727T>C, NM_001253729.2:c.826T>C, NM_001253729.1:c.826T>C, NR_045584.2:n.974T>C, NR_045584.1:n.1142T>C, NM_001363776.1:c.583T>C, XM_017008518.3:c.826T>C, XM_017008518.2:c.826T>C, XM_017008518.1:c.826T>C, XM_011532179.3:c.907T>C, XM_011532179.2:c.907T>C, XM_011532179.1:c.907T>C, XM_017008523.3:c.826T>C, XM_017008523.2:c.826T>C, XM_017008523.1:c.826T>C, XM_011532174.2:c.907T>C, XM_011532174.1:c.907T>C, XM_017008520.2:c.664T>C, XM_017008520.1:c.664T>C, XM_017008525.2:c.727T>C, XM_017008525.1:c.727T>C

                              15.

                              rs1466454462 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:158648654 (GRCh38)
                                4:159569806 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:158648653:G:A
                                Gene:
                                RXFP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000094/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000004.12:g.158648654G>A, NC_000004.11:g.159569806G>A, NG_031835.2:g.131941G>A, NM_021634.4:c.1912G>A, NM_021634.3:c.1912G>A, NR_045579.2:n.2624G>A, NR_045579.1:n.2792G>A, NM_001253732.2:c.1516G>A, NM_001253732.1:c.1516G>A, NM_001253727.2:c.1993G>A, NM_001253727.1:c.1993G>A, NR_045580.2:n.2060G>A, NR_045580.1:n.2228G>A, NR_045581.2:n.2031G>A, NR_045581.1:n.2199G>A, NM_001253733.2:c.1444G>A, NM_001253733.1:c.1444G>A, NR_045582.2:n.1968G>A, NR_045582.1:n.2136G>A, NR_045583.2:n.1947G>A, NR_045583.1:n.2115G>A, NM_001253730.2:c.1519G>A, NM_001253730.1:c.1519G>A, NM_001253728.2:c.1813G>A, NM_001253728.1:c.1813G>A, NM_001253729.2:c.1768G>A, NM_001253729.1:c.1768G>A, NM_001363776.1:c.1669G>A, XM_017008518.3:c.1909G>A, XM_017008518.2:c.1909G>A, XM_017008518.1:c.1909G>A, XM_011532176.3:c.1840G>A, XM_011532176.2:c.1840G>A, XM_011532176.1:c.1840G>A, XM_011532174.2:c.1990G>A, XM_011532174.1:c.1990G>A, XM_011532175.2:c.1921G>A, XM_011532175.1:c.1921G>A, XM_017008517.2:c.1918G>A, XM_017008517.1:c.1918G>A, XM_017008520.2:c.1750G>A, XM_017008520.1:c.1750G>A, XM_017008526.2:c.1444G>A, XM_017008526.1:c.1444G>A, NP_067647.2:p.Ala638Thr, NP_001240661.1:p.Ala506Thr, NP_001240656.1:p.Ala665Thr, NP_001240662.1:p.Ala482Thr, NP_001240659.1:p.Ala507Thr, NP_001240657.1:p.Ala605Thr, NP_001240658.1:p.Ala590Thr, NP_001350705.1:p.Ala557Thr, XP_016864007.1:p.Ala637Thr, XP_011530478.1:p.Ala614Thr, XP_011530476.1:p.Ala664Thr, XP_011530477.1:p.Ala641Thr, XP_016864006.1:p.Ala640Thr, XP_016864009.1:p.Ala584Thr, XP_016864015.1:p.Ala482Thr

                                16.

                                rs1466113519 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:158646814 (GRCh38)
                                  4:159567966 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:158646813:T:C
                                  Gene:
                                  RXFP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.158646814T>C, NC_000004.11:g.159567966T>C, NG_031835.2:g.130101T>C, NM_021634.4:c.1369T>C, NM_021634.3:c.1369T>C, NR_045579.2:n.2081T>C, NR_045579.1:n.2249T>C, NM_001253732.2:c.973T>C, NM_001253732.1:c.973T>C, NM_001253727.2:c.1450T>C, NM_001253727.1:c.1450T>C, NR_045580.2:n.1517T>C, NR_045580.1:n.1685T>C, NR_045581.2:n.1488T>C, NR_045581.1:n.1656T>C, NM_001253733.2:c.901T>C, NM_001253733.1:c.901T>C, NR_045582.2:n.1425T>C, NR_045582.1:n.1593T>C, NR_045583.2:n.1404T>C, NR_045583.1:n.1572T>C, NM_001253730.2:c.976T>C, NM_001253730.1:c.976T>C, NM_001253728.2:c.1270T>C, NM_001253728.1:c.1270T>C, NM_001253729.2:c.1225T>C, NM_001253729.1:c.1225T>C, NM_001363776.1:c.1126T>C, XM_017008518.3:c.1366T>C, XM_017008518.2:c.1366T>C, XM_017008518.1:c.1366T>C, XM_011532176.3:c.1297T>C, XM_011532176.2:c.1297T>C, XM_011532176.1:c.1297T>C, XM_011532174.2:c.1447T>C, XM_011532174.1:c.1447T>C, XM_011532175.2:c.1378T>C, XM_011532175.1:c.1378T>C, XM_017008517.2:c.1375T>C, XM_017008517.1:c.1375T>C, XM_017008520.2:c.1207T>C, XM_017008520.1:c.1207T>C, XM_017008526.2:c.901T>C, XM_017008526.1:c.901T>C, NP_067647.2:p.Tyr457His, NP_001240661.1:p.Tyr325His, NP_001240656.1:p.Tyr484His, NP_001240662.1:p.Tyr301His, NP_001240659.1:p.Tyr326His, NP_001240657.1:p.Tyr424His, NP_001240658.1:p.Tyr409His, NP_001350705.1:p.Tyr376His, XP_016864007.1:p.Tyr456His, XP_011530478.1:p.Tyr433His, XP_011530476.1:p.Tyr483His, XP_011530477.1:p.Tyr460His, XP_016864006.1:p.Tyr459His, XP_016864009.1:p.Tyr403His, XP_016864015.1:p.Tyr301His

                                  17.

                                  rs1465055185 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    4:158639301 (GRCh38)
                                    4:159560453 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:158639300:T:C
                                    Gene:
                                    RXFP1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.158639301T>C, NC_000004.11:g.159560453T>C, NG_031835.2:g.122588T>C, NM_021634.4:c.1085T>C, NM_021634.3:c.1085T>C, NR_045579.2:n.1797T>C, NR_045579.1:n.1965T>C, NM_001253732.2:c.689T>C, NM_001253732.1:c.689T>C, NM_001253727.2:c.1166T>C, NM_001253727.1:c.1166T>C, NR_045580.2:n.1233T>C, NR_045580.1:n.1401T>C, NR_045581.2:n.1204T>C, NR_045581.1:n.1372T>C, NM_001253733.2:c.617T>C, NM_001253733.1:c.617T>C, NR_045582.2:n.1141T>C, NR_045582.1:n.1309T>C, NR_045583.2:n.1120T>C, NR_045583.1:n.1288T>C, NM_001253730.2:c.692T>C, NM_001253730.1:c.692T>C, NM_001253728.2:c.986T>C, NM_001253728.1:c.986T>C, NM_001253729.2:c.941T>C, NM_001253729.1:c.941T>C, NR_045584.2:n.1233T>C, NR_045584.1:n.1401T>C, NM_001363776.1:c.842T>C, XM_017008518.3:c.1082T>C, XM_017008518.2:c.1082T>C, XM_017008518.1:c.1082T>C, XM_011532176.3:c.1013T>C, XM_011532176.2:c.1013T>C, XM_011532176.1:c.1013T>C, XM_011532179.3:c.1166T>C, XM_011532179.2:c.1166T>C, XM_011532179.1:c.1166T>C, XM_017008523.3:c.1085T>C, XM_017008523.2:c.1085T>C, XM_017008523.1:c.1085T>C, XM_017008524.3:c.1013T>C, XM_017008524.2:c.1013T>C, XM_017008524.1:c.1013T>C, XM_011532174.2:c.1163T>C, XM_011532174.1:c.1163T>C, XM_011532175.2:c.1094T>C, XM_011532175.1:c.1094T>C, XM_017008517.2:c.1091T>C, XM_017008517.1:c.1091T>C, XM_017008520.2:c.923T>C, XM_017008520.1:c.923T>C, XM_017008526.2:c.617T>C, XM_017008526.1:c.617T>C, XM_017008525.2:c.986T>C, XM_017008525.1:c.986T>C, NP_067647.2:p.Met362Thr, NP_001240661.1:p.Met230Thr, NP_001240656.1:p.Met389Thr, NP_001240662.1:p.Met206Thr, NP_001240659.1:p.Met231Thr, NP_001240657.1:p.Met329Thr, NP_001240658.1:p.Met314Thr, NP_001350705.1:p.Met281Thr, XP_016864007.1:p.Met361Thr, XP_011530478.1:p.Met338Thr, XP_011530481.1:p.Met389Thr, XP_016864012.1:p.Met362Thr, XP_016864013.1:p.Met338Thr, XP_011530476.1:p.Met388Thr, XP_011530477.1:p.Met365Thr, XP_016864006.1:p.Met364Thr, XP_016864009.1:p.Met308Thr, XP_016864015.1:p.Met206Thr, XP_016864014.1:p.Met329Thr

                                    18.

                                    rs1464461963 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:158599386 (GRCh38)
                                      4:159520538 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:158599385:C:T
                                      Gene:
                                      RXFP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.158599386C>T, NC_000004.11:g.159520538C>T, NG_031835.2:g.82673C>T, NM_021634.4:c.347C>T, NM_021634.3:c.347C>T, NR_045579.2:n.1131C>T, NR_045579.1:n.1299C>T, NM_001253732.2:c.-134C>T, NM_001253732.1:c.-134C>T, NM_001253727.2:c.428C>T, NM_001253727.1:c.428C>T, NR_045580.2:n.495C>T, NR_045580.1:n.663C>T, NR_045581.2:n.466C>T, NR_045581.1:n.634C>T, NM_001253733.2:c.-134C>T, NM_001253733.1:c.-134C>T, NR_045582.2:n.547C>T, NR_045582.1:n.715C>T, NR_045583.2:n.385C>T, NR_045583.1:n.553C>T, NM_001253730.2:c.-44C>T, NM_001253730.1:c.-44C>T, NM_001253728.2:c.248C>T, NM_001253728.1:c.248C>T, NM_001253729.2:c.347C>T, NM_001253729.1:c.347C>T, NR_045584.2:n.442C>T, NR_045584.1:n.610C>T, NM_001363776.1:c.104C>T, XM_017008518.3:c.347C>T, XM_017008518.2:c.347C>T, XM_017008518.1:c.347C>T, XM_011532176.3:c.347C>T, XM_011532176.2:c.347C>T, XM_011532176.1:c.347C>T, XM_011532179.3:c.428C>T, XM_011532179.2:c.428C>T, XM_011532179.1:c.428C>T, XM_017008523.3:c.347C>T, XM_017008523.2:c.347C>T, XM_017008523.1:c.347C>T, XM_017008524.3:c.347C>T, XM_017008524.2:c.347C>T, XM_017008524.1:c.347C>T, XM_011532174.2:c.428C>T, XM_011532174.1:c.428C>T, XM_011532175.2:c.428C>T, XM_011532175.1:c.428C>T, XM_017008517.2:c.428C>T, XM_017008517.1:c.428C>T, XM_017008520.2:c.185C>T, XM_017008520.1:c.185C>T, XM_017008525.2:c.248C>T, XM_017008525.1:c.248C>T, NP_067647.2:p.Thr116Ile, NP_001240656.1:p.Thr143Ile, NP_001240657.1:p.Thr83Ile, NP_001240658.1:p.Thr116Ile, NP_001350705.1:p.Thr35Ile, XP_016864007.1:p.Thr116Ile, XP_011530478.1:p.Thr116Ile, XP_011530481.1:p.Thr143Ile, XP_016864012.1:p.Thr116Ile, XP_016864013.1:p.Thr116Ile, XP_011530476.1:p.Thr143Ile, XP_011530477.1:p.Thr143Ile, XP_016864006.1:p.Thr143Ile, XP_016864009.1:p.Thr62Ile, XP_016864014.1:p.Thr83Ile

                                      19.

                                      rs1464195083 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        4:158651961 (GRCh38)
                                        4:159573113 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:158651960:A:
                                        Gene:
                                        RXFP1 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.158651961del, NC_000004.11:g.159573113del, NG_031835.2:g.135248del, NM_021634.4:c.2180del, NM_021634.3:c.2180del, NR_045579.2:n.2892del, NR_045579.1:n.3060del, NM_001253732.2:c.1784del, NM_001253732.1:c.1784del, NM_001253727.2:c.2261del, NM_001253727.1:c.2261del, NR_045580.2:n.2328del, NR_045580.1:n.2496del, NR_045581.2:n.2299del, NR_045581.1:n.2467del, NM_001253733.2:c.1712del, NM_001253733.1:c.1712del, NR_045582.2:n.2236del, NR_045582.1:n.2404del, NR_045583.2:n.2215del, NR_045583.1:n.2383del, NM_001253730.2:c.1787del, NM_001253730.1:c.1787del, NM_001253728.2:c.2081del, NM_001253728.1:c.2081del, NM_001253729.2:c.2036del, NM_001253729.1:c.2036del, NM_001363776.1:c.1937del, XM_017008518.3:c.2177del, XM_017008518.2:c.2177del, XM_017008518.1:c.2177del, XM_011532176.3:c.2108del, XM_011532176.2:c.2108del, XM_011532176.1:c.2108del, XM_011532179.3:c.*162del, XM_011532179.2:c.*162del, XM_017008523.3:c.*162del, XM_017008523.2:c.*162del, XM_017008523.1:c.*162del, XM_017008524.3:c.*162del, XM_017008524.2:c.*162del, XM_017008524.1:c.*162del, XM_011532174.2:c.2258del, XM_011532174.1:c.2258del, XM_011532175.2:c.2189del, XM_011532175.1:c.2189del, XM_017008517.2:c.2186del, XM_017008517.1:c.2186del, XM_017008520.2:c.2018del, XM_017008520.1:c.2018del, XM_017008526.2:c.1712del, XM_017008526.1:c.1712del, XM_017008525.2:c.*162del, XM_017008525.1:c.*162del, NP_067647.2:p.Glu727fs, NP_001240661.1:p.Glu595fs, NP_001240656.1:p.Glu754fs, NP_001240662.1:p.Glu571fs, NP_001240659.1:p.Glu596fs, NP_001240657.1:p.Glu694fs, NP_001240658.1:p.Glu679fs, NP_001350705.1:p.Glu646fs, XP_016864007.1:p.Glu726fs, XP_011530478.1:p.Glu703fs, XP_011530476.1:p.Glu753fs, XP_011530477.1:p.Glu730fs, XP_016864006.1:p.Glu729fs, XP_016864009.1:p.Glu673fs, XP_016864015.1:p.Glu571fs

                                        20.

                                        rs1464156022 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          4:158647002 (GRCh38)
                                          4:159568154 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:158647001:A:T
                                          Gene:
                                          RXFP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.158647002A>T, NC_000004.11:g.159568154A>T, NG_031835.2:g.130289A>T, NM_021634.4:c.1557A>T, NM_021634.3:c.1557A>T, NR_045579.2:n.2269A>T, NR_045579.1:n.2437A>T, NM_001253732.2:c.1161A>T, NM_001253732.1:c.1161A>T, NM_001253727.2:c.1638A>T, NM_001253727.1:c.1638A>T, NR_045580.2:n.1705A>T, NR_045580.1:n.1873A>T, NR_045581.2:n.1676A>T, NR_045581.1:n.1844A>T, NM_001253733.2:c.1089A>T, NM_001253733.1:c.1089A>T, NR_045582.2:n.1613A>T, NR_045582.1:n.1781A>T, NR_045583.2:n.1592A>T, NR_045583.1:n.1760A>T, NM_001253730.2:c.1164A>T, NM_001253730.1:c.1164A>T, NM_001253728.2:c.1458A>T, NM_001253728.1:c.1458A>T, NM_001253729.2:c.1413A>T, NM_001253729.1:c.1413A>T, NM_001363776.1:c.1314A>T, XM_017008518.3:c.1554A>T, XM_017008518.2:c.1554A>T, XM_017008518.1:c.1554A>T, XM_011532176.3:c.1485A>T, XM_011532176.2:c.1485A>T, XM_011532176.1:c.1485A>T, XM_011532174.2:c.1635A>T, XM_011532174.1:c.1635A>T, XM_011532175.2:c.1566A>T, XM_011532175.1:c.1566A>T, XM_017008517.2:c.1563A>T, XM_017008517.1:c.1563A>T, XM_017008520.2:c.1395A>T, XM_017008520.1:c.1395A>T, XM_017008526.2:c.1089A>T, XM_017008526.1:c.1089A>T, NP_067647.2:p.Arg519Ser, NP_001240661.1:p.Arg387Ser, NP_001240656.1:p.Arg546Ser, NP_001240662.1:p.Arg363Ser, NP_001240659.1:p.Arg388Ser, NP_001240657.1:p.Arg486Ser, NP_001240658.1:p.Arg471Ser, NP_001350705.1:p.Arg438Ser, XP_016864007.1:p.Arg518Ser, XP_011530478.1:p.Arg495Ser, XP_011530476.1:p.Arg545Ser, XP_011530477.1:p.Arg522Ser, XP_016864006.1:p.Arg521Ser, XP_016864009.1:p.Arg465Ser, XP_016864015.1:p.Arg363Ser

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