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Links from Protein

Items: 1 to 20 of 865

1.

rs1490902177 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CCCTCCGCCGCC [Show Flanks]
    Chromosome:
    X:67546265 (GRCh38)
    X:66766108 (GRCh37)
    Canonical SPDI:
    NC_000023.11:67546265:CCGCCGCCCCCTCCGCCGCC:CCGCCGCCCCCTCCGCCGCCCCCTCCGCCGCC
    Gene:
    AR (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_insertion,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    CCGCCGCCCCCTCCGCCGCCCCCTCCGCCGCC=0./0 (ALFA)
    HGVS:

    2.

    rs1489924686 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGCAGC>-,TGCAGCTGCAGC [Show Flanks]
      Chromosome:
      X:67545316 (GRCh38)
      X:66765158 (GRCh37)
      Canonical SPDI:
      NC_000023.11:67545313:GCTGCAGC:GC,NC_000023.11:67545313:GCTGCAGC:GCTGCAGCTGCAGC
      Gene:
      AR (Varview)
      Functional Consequence:
      inframe_deletion,coding_sequence_variant,inframe_insertion,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GC=0.000288/6 (ALFA)
      -=0.000077/11 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.67545316_67545321del, NC_000023.11:g.67545316_67545321dup, NC_000023.10:g.66765158_66765163del, NC_000023.10:g.66765158_66765163dup, NG_009014.2:g.6285_6290del, NG_009014.2:g.6285_6290dup, NM_000044.6:c.170_175del, NM_000044.6:c.170_175dup, NM_000044.5:c.170_175del, NM_000044.5:c.170_175dup, NM_000044.4:c.170_175del, NM_000044.4:c.170_175dup, NM_000044.3:c.170_175del, NM_000044.3:c.170_175dup, NM_001011645.3:c.-1614_-1609del, NM_001011645.3:c.-1614_-1609dup, NM_001348061.1:c.170_175del, NM_001348061.1:c.170_175dup, NM_001348064.1:c.170_175del, NM_001348064.1:c.170_175dup, NM_001348063.1:c.170_175del, NM_001348063.1:c.170_175dup, NG_052629.1:g.100_105del, NG_052629.1:g.100_105dup, NP_000035.2:p.Leu57_Gln58del, NP_000035.2:p.Leu57_Gln58dup, NP_001334990.1:p.Leu57_Gln58del, NP_001334990.1:p.Leu57_Gln58dup, NP_001334993.1:p.Leu57_Gln58del, NP_001334993.1:p.Leu57_Gln58dup, NP_001334992.1:p.Leu57_Gln58del, NP_001334992.1:p.Leu57_Gln58dup

      3.

      rs1488599917 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:67711610 (GRCh38)
        X:66931452 (GRCh37)
        Canonical SPDI:
        NC_000023.11:67711609:T:C
        Gene:
        AR (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000019/2 (GnomAD)
        C=0.000023/6 (TOPMED)
        HGVS:

        4.

        rs1488415900 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          X:67546498 (GRCh38)
          X:66766340 (GRCh37)
          Canonical SPDI:
          NC_000023.11:67546497:G:A,NC_000023.11:67546497:G:C,NC_000023.11:67546497:G:T
          Gene:
          AR (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.00001/1 (GnomAD)
          A=0.00001/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.67546498G>A, NC_000023.11:g.67546498G>C, NC_000023.11:g.67546498G>T, NC_000023.10:g.66766340G>A, NC_000023.10:g.66766340G>C, NC_000023.10:g.66766340G>T, NG_009014.2:g.7467G>A, NG_009014.2:g.7467G>C, NG_009014.2:g.7467G>T, NM_000044.6:c.1352G>A, NM_000044.6:c.1352G>C, NM_000044.6:c.1352G>T, NM_000044.5:c.1352G>A, NM_000044.5:c.1352G>C, NM_000044.5:c.1352G>T, NM_000044.4:c.1352G>A, NM_000044.4:c.1352G>C, NM_000044.4:c.1352G>T, NM_000044.3:c.1352G>A, NM_000044.3:c.1352G>C, NM_000044.3:c.1352G>T, NM_001011645.3:c.-432G>A, NM_001011645.3:c.-432G>C, NM_001011645.3:c.-432G>T, NM_001348061.1:c.1352G>A, NM_001348061.1:c.1352G>C, NM_001348061.1:c.1352G>T, NM_001348064.1:c.1352G>A, NM_001348064.1:c.1352G>C, NM_001348064.1:c.1352G>T, NM_001348063.1:c.1352G>A, NM_001348063.1:c.1352G>C, NM_001348063.1:c.1352G>T, NP_000035.2:p.Gly451Asp, NP_000035.2:p.Gly451Ala, NP_000035.2:p.Gly451Val, NP_001334990.1:p.Gly451Asp, NP_001334990.1:p.Gly451Ala, NP_001334990.1:p.Gly451Val, NP_001334993.1:p.Gly451Asp, NP_001334993.1:p.Gly451Ala, NP_001334993.1:p.Gly451Val, NP_001334992.1:p.Gly451Asp, NP_001334992.1:p.Gly451Ala, NP_001334992.1:p.Gly451Val

          5.

          rs1486898314 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            X:67546226 (GRCh38)
            X:66766068 (GRCh37)
            Canonical SPDI:
            NC_000023.11:67546225:G:A,NC_000023.11:67546225:G:C
            Gene:
            AR (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,synonymous_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000006/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1486793424 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              X:67545371 (GRCh38)
              X:66765213 (GRCh37)
              Canonical SPDI:
              NC_000023.11:67545370:GC:
              Gene:
              AR (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              -=0.000006/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1485942997 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C,G [Show Flanks]
                Chromosome:
                X:67545657 (GRCh38)
                X:66765499 (GRCh37)
                Canonical SPDI:
                NC_000023.11:67545656:T:A,NC_000023.11:67545656:T:C,NC_000023.11:67545656:T:G
                Gene:
                AR (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant
                Validated:
                by cluster
                HGVS:
                NC_000023.11:g.67545657T>A, NC_000023.11:g.67545657T>C, NC_000023.11:g.67545657T>G, NC_000023.10:g.66765499T>A, NC_000023.10:g.66765499T>C, NC_000023.10:g.66765499T>G, NG_009014.2:g.6626T>A, NG_009014.2:g.6626T>C, NG_009014.2:g.6626T>G, NM_000044.6:c.511T>A, NM_000044.6:c.511T>C, NM_000044.6:c.511T>G, NM_000044.5:c.511T>A, NM_000044.5:c.511T>C, NM_000044.5:c.511T>G, NM_000044.4:c.511T>A, NM_000044.4:c.511T>C, NM_000044.4:c.511T>G, NM_000044.3:c.511T>A, NM_000044.3:c.511T>C, NM_000044.3:c.511T>G, NM_001011645.3:c.-1273T>A, NM_001011645.3:c.-1273T>C, NM_001011645.3:c.-1273T>G, NM_001348061.1:c.511T>A, NM_001348061.1:c.511T>C, NM_001348061.1:c.511T>G, NM_001348064.1:c.511T>A, NM_001348064.1:c.511T>C, NM_001348064.1:c.511T>G, NM_001348063.1:c.511T>A, NM_001348063.1:c.511T>C, NM_001348063.1:c.511T>G, NP_000035.2:p.Phe171Ile, NP_000035.2:p.Phe171Leu, NP_000035.2:p.Phe171Val, NP_001334990.1:p.Phe171Ile, NP_001334990.1:p.Phe171Leu, NP_001334990.1:p.Phe171Val, NP_001334993.1:p.Phe171Ile, NP_001334993.1:p.Phe171Leu, NP_001334993.1:p.Phe171Val, NP_001334992.1:p.Phe171Ile, NP_001334992.1:p.Phe171Leu, NP_001334992.1:p.Phe171Val

                8.

                rs1485244725 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  X:67546501 (GRCh38)
                  X:66766343 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:67546500:G:A,NC_000023.11:67546500:G:C,NC_000023.11:67546500:G:T
                  Gene:
                  AR (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000019/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.67546501G>A, NC_000023.11:g.67546501G>C, NC_000023.11:g.67546501G>T, NC_000023.10:g.66766343G>A, NC_000023.10:g.66766343G>C, NC_000023.10:g.66766343G>T, NG_009014.2:g.7470G>A, NG_009014.2:g.7470G>C, NG_009014.2:g.7470G>T, NM_000044.6:c.1355G>A, NM_000044.6:c.1355G>C, NM_000044.6:c.1355G>T, NM_000044.5:c.1355G>A, NM_000044.5:c.1355G>C, NM_000044.5:c.1355G>T, NM_000044.4:c.1355G>A, NM_000044.4:c.1355G>C, NM_000044.4:c.1355G>T, NM_000044.3:c.1355G>A, NM_000044.3:c.1355G>C, NM_000044.3:c.1355G>T, NM_001011645.3:c.-429G>A, NM_001011645.3:c.-429G>C, NM_001011645.3:c.-429G>T, NM_001348061.1:c.1355G>A, NM_001348061.1:c.1355G>C, NM_001348061.1:c.1355G>T, NM_001348064.1:c.1355G>A, NM_001348064.1:c.1355G>C, NM_001348064.1:c.1355G>T, NM_001348063.1:c.1355G>A, NM_001348063.1:c.1355G>C, NM_001348063.1:c.1355G>T, NP_000035.2:p.Gly452Asp, NP_000035.2:p.Gly452Ala, NP_000035.2:p.Gly452Val, NP_001334990.1:p.Gly452Asp, NP_001334990.1:p.Gly452Ala, NP_001334990.1:p.Gly452Val, NP_001334993.1:p.Gly452Asp, NP_001334993.1:p.Gly452Ala, NP_001334993.1:p.Gly452Val, NP_001334992.1:p.Gly452Asp, NP_001334992.1:p.Gly452Ala, NP_001334992.1:p.Gly452Val

                  9.

                  rs1483031159 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TGCCCTATCC [Show Flanks]
                    Chromosome:
                    X:67546675 (GRCh38)
                    X:66766518 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:67546675::TGCCCTATCC
                    Gene:
                    AR (Varview)
                    Functional Consequence:
                    coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TGCCCTATCC=0./0 (ALFA)
                    TGCCCTATCC=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1482927236 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:67721884 (GRCh38)
                      X:66941726 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:67721883:C:T
                      Gene:
                      AR (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000005/1 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1481579925 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        X:67545949 (GRCh38)
                        X:66765791 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:67545948:T:A,NC_000023.11:67545948:T:G
                        Gene:
                        AR (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000005/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1481549942 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:67546561 (GRCh38)
                          X:66766403 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:67546560:G:A
                          Gene:
                          AR (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00005/1 (TOMMO)
                          HGVS:

                          13.

                          rs1481518005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            X:67545844 (GRCh38)
                            X:66765686 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:67545843:C:A,NC_000023.11:67545843:C:G,NC_000023.11:67545843:C:T
                            Gene:
                            AR (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000023.11:g.67545844C>A, NC_000023.11:g.67545844C>G, NC_000023.11:g.67545844C>T, NC_000023.10:g.66765686C>A, NC_000023.10:g.66765686C>G, NC_000023.10:g.66765686C>T, NG_009014.2:g.6813C>A, NG_009014.2:g.6813C>G, NG_009014.2:g.6813C>T, NM_000044.6:c.698C>A, NM_000044.6:c.698C>G, NM_000044.6:c.698C>T, NM_000044.5:c.698C>A, NM_000044.5:c.698C>G, NM_000044.5:c.698C>T, NM_000044.4:c.698C>A, NM_000044.4:c.698C>G, NM_000044.4:c.698C>T, NM_000044.3:c.698C>A, NM_000044.3:c.698C>G, NM_000044.3:c.698C>T, NM_001011645.3:c.-1086C>A, NM_001011645.3:c.-1086C>G, NM_001011645.3:c.-1086C>T, NM_001348061.1:c.698C>A, NM_001348061.1:c.698C>G, NM_001348061.1:c.698C>T, NM_001348064.1:c.698C>A, NM_001348064.1:c.698C>G, NM_001348064.1:c.698C>T, NM_001348063.1:c.698C>A, NM_001348063.1:c.698C>G, NM_001348063.1:c.698C>T, NP_000035.2:p.Ser233Tyr, NP_000035.2:p.Ser233Cys, NP_000035.2:p.Ser233Phe, NP_001334990.1:p.Ser233Tyr, NP_001334990.1:p.Ser233Cys, NP_001334990.1:p.Ser233Phe, NP_001334993.1:p.Ser233Tyr, NP_001334993.1:p.Ser233Cys, NP_001334993.1:p.Ser233Phe, NP_001334992.1:p.Ser233Tyr, NP_001334992.1:p.Ser233Cys, NP_001334992.1:p.Ser233Phe

                            14.

                            rs1481151440 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              X:67545467 (GRCh38)
                              X:66765309 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:67545466:C:A,NC_000023.11:67545466:C:G,NC_000023.11:67545466:C:T
                              Gene:
                              AR (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                              Clinical significance:
                              pathogenic
                              Validated:
                              by cluster
                              HGVS:
                              NC_000023.11:g.67545467C>A, NC_000023.11:g.67545467C>G, NC_000023.11:g.67545467C>T, NC_000023.10:g.66765309C>A, NC_000023.10:g.66765309C>G, NC_000023.10:g.66765309C>T, NG_009014.2:g.6436C>A, NG_009014.2:g.6436C>G, NG_009014.2:g.6436C>T, NM_000044.6:c.321C>A, NM_000044.6:c.321C>G, NM_000044.6:c.321C>T, NM_000044.5:c.321C>A, NM_000044.5:c.321C>G, NM_000044.5:c.321C>T, NM_000044.4:c.321C>A, NM_000044.4:c.321C>G, NM_000044.4:c.321C>T, NM_000044.3:c.321C>A, NM_000044.3:c.321C>G, NM_000044.3:c.321C>T, NM_001011645.3:c.-1463C>A, NM_001011645.3:c.-1463C>G, NM_001011645.3:c.-1463C>T, NM_001348061.1:c.321C>A, NM_001348061.1:c.321C>G, NM_001348061.1:c.321C>T, NM_001348064.1:c.321C>A, NM_001348064.1:c.321C>G, NM_001348064.1:c.321C>T, NM_001348063.1:c.321C>A, NM_001348063.1:c.321C>G, NM_001348063.1:c.321C>T, NG_052629.1:g.251C>A, NG_052629.1:g.251C>G, NG_052629.1:g.251C>T, NP_000035.2:p.Tyr107Ter, NP_000035.2:p.Tyr107Ter, NP_001334990.1:p.Tyr107Ter, NP_001334990.1:p.Tyr107Ter, NP_001334993.1:p.Tyr107Ter, NP_001334993.1:p.Tyr107Ter, NP_001334992.1:p.Tyr107Ter, NP_001334992.1:p.Tyr107Ter

                              15.

                              rs1480539040 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                X:67545783 (GRCh38)
                                X:66765625 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:67545782:G:A,NC_000023.11:67545782:G:C,NC_000023.11:67545782:G:T
                                Gene:
                                AR (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000142/2 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000023.11:g.67545783G>A, NC_000023.11:g.67545783G>C, NC_000023.11:g.67545783G>T, NC_000023.10:g.66765625G>A, NC_000023.10:g.66765625G>C, NC_000023.10:g.66765625G>T, NG_009014.2:g.6752G>A, NG_009014.2:g.6752G>C, NG_009014.2:g.6752G>T, NM_000044.6:c.637G>A, NM_000044.6:c.637G>C, NM_000044.6:c.637G>T, NM_000044.5:c.637G>A, NM_000044.5:c.637G>C, NM_000044.5:c.637G>T, NM_000044.4:c.637G>A, NM_000044.4:c.637G>C, NM_000044.4:c.637G>T, NM_000044.3:c.637G>A, NM_000044.3:c.637G>C, NM_000044.3:c.637G>T, NM_001011645.3:c.-1147G>A, NM_001011645.3:c.-1147G>C, NM_001011645.3:c.-1147G>T, NM_001348061.1:c.637G>A, NM_001348061.1:c.637G>C, NM_001348061.1:c.637G>T, NM_001348064.1:c.637G>A, NM_001348064.1:c.637G>C, NM_001348064.1:c.637G>T, NM_001348063.1:c.637G>A, NM_001348063.1:c.637G>C, NM_001348063.1:c.637G>T, NP_000035.2:p.Glu213Lys, NP_000035.2:p.Glu213Gln, NP_000035.2:p.Glu213Ter, NP_001334990.1:p.Glu213Lys, NP_001334990.1:p.Glu213Gln, NP_001334990.1:p.Glu213Ter, NP_001334993.1:p.Glu213Lys, NP_001334993.1:p.Glu213Gln, NP_001334993.1:p.Glu213Ter, NP_001334992.1:p.Glu213Lys, NP_001334992.1:p.Glu213Gln, NP_001334992.1:p.Glu213Ter

                                16.

                                rs1479622768 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  X:67546548 (GRCh38)
                                  X:66766390 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:67546547:G:A,NC_000023.11:67546547:G:C,NC_000023.11:67546547:G:T
                                  Gene:
                                  AR (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.67546548G>A, NC_000023.11:g.67546548G>C, NC_000023.11:g.67546548G>T, NC_000023.10:g.66766390G>A, NC_000023.10:g.66766390G>C, NC_000023.10:g.66766390G>T, NG_009014.2:g.7517G>A, NG_009014.2:g.7517G>C, NG_009014.2:g.7517G>T, NM_000044.6:c.1402G>A, NM_000044.6:c.1402G>C, NM_000044.6:c.1402G>T, NM_000044.5:c.1402G>A, NM_000044.5:c.1402G>C, NM_000044.5:c.1402G>T, NM_000044.4:c.1402G>A, NM_000044.4:c.1402G>C, NM_000044.4:c.1402G>T, NM_000044.3:c.1402G>A, NM_000044.3:c.1402G>C, NM_000044.3:c.1402G>T, NM_001011645.3:c.-382G>A, NM_001011645.3:c.-382G>C, NM_001011645.3:c.-382G>T, NM_001348061.1:c.1402G>A, NM_001348061.1:c.1402G>C, NM_001348061.1:c.1402G>T, NM_001348064.1:c.1402G>A, NM_001348064.1:c.1402G>C, NM_001348064.1:c.1402G>T, NM_001348063.1:c.1402G>A, NM_001348063.1:c.1402G>C, NM_001348063.1:c.1402G>T, NP_000035.2:p.Gly468Ser, NP_000035.2:p.Gly468Arg, NP_000035.2:p.Gly468Cys, NP_001334990.1:p.Gly468Ser, NP_001334990.1:p.Gly468Arg, NP_001334990.1:p.Gly468Cys, NP_001334993.1:p.Gly468Ser, NP_001334993.1:p.Gly468Arg, NP_001334993.1:p.Gly468Cys, NP_001334992.1:p.Gly468Ser, NP_001334992.1:p.Gly468Arg, NP_001334992.1:p.Gly468Cys

                                  17.

                                  rs1477263359 has merged into rs746853821 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG>-,GCG,GCGGCG,GCGGCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG [Show Flanks]
                                    Chromosome:
                                    X:67546525 (GRCh38)
                                    X:66766367 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000023.11:67546514:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
                                    Gene:
                                    AR (Varview)
                                    Functional Consequence:
                                    inframe_deletion,coding_sequence_variant,inframe_insertion,5_prime_UTR_variant
                                    Clinical significance:
                                    likely-benign,benign,benign-likely-benign,uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGCGGCGGCGGCGGCG=0./0 (ALFA)
                                    -=0.004114/1089 (TOPMED)
                                    -=0.075862/33 (GoESP)
                                    GGC=0.197616/746 (1000Genomes)
                                    HGVS:
                                    NC_000023.11:g.67546516GCG[3], NC_000023.11:g.67546516GCG[4], NC_000023.11:g.67546516GCG[5], NC_000023.11:g.67546516GCG[6], NC_000023.11:g.67546516GCG[7], NC_000023.11:g.67546516GCG[8], NC_000023.11:g.67546516GCG[9], NC_000023.11:g.67546516GCG[10], NC_000023.11:g.67546516GCG[11], NC_000023.11:g.67546516GCG[12], NC_000023.11:g.67546516GCG[13], NC_000023.11:g.67546516GCG[14], NC_000023.11:g.67546516GCG[15], NC_000023.11:g.67546516GCG[16], NC_000023.11:g.67546516GCG[18], NC_000023.11:g.67546516GCG[19], NC_000023.11:g.67546516GCG[20], NC_000023.11:g.67546516GCG[21], NC_000023.11:g.67546516GCG[22], NC_000023.11:g.67546516GCG[23], NC_000023.11:g.67546516GCG[24], NC_000023.11:g.67546516GCG[25], NC_000023.11:g.67546516GCG[26], NC_000023.11:g.67546516GCG[27], NC_000023.11:g.67546516GCG[28], NC_000023.11:g.67546516GCG[29], NC_000023.11:g.67546516GCG[32], NC_000023.10:g.66766358GCG[3], NC_000023.10:g.66766358GCG[4], NC_000023.10:g.66766358GCG[5], NC_000023.10:g.66766358GCG[6], NC_000023.10:g.66766358GCG[7], NC_000023.10:g.66766358GCG[8], NC_000023.10:g.66766358GCG[9], NC_000023.10:g.66766358GCG[10], NC_000023.10:g.66766358GCG[11], NC_000023.10:g.66766358GCG[12], NC_000023.10:g.66766358GCG[13], NC_000023.10:g.66766358GCG[14], NC_000023.10:g.66766358GCG[15], NC_000023.10:g.66766358GCG[16], NC_000023.10:g.66766358GCG[18], NC_000023.10:g.66766358GCG[19], NC_000023.10:g.66766358GCG[20], NC_000023.10:g.66766358GCG[21], NC_000023.10:g.66766358GCG[22], NC_000023.10:g.66766358GCG[23], NC_000023.10:g.66766358GCG[24], NC_000023.10:g.66766358GCG[25], NC_000023.10:g.66766358GCG[26], NC_000023.10:g.66766358GCG[27], NC_000023.10:g.66766358GCG[28], NC_000023.10:g.66766358GCG[29], NC_000023.10:g.66766358GCG[32], NG_009014.2:g.7485GCG[3], NG_009014.2:g.7485GCG[4], NG_009014.2:g.7485GCG[5], NG_009014.2:g.7485GCG[6], NG_009014.2:g.7485GCG[7], NG_009014.2:g.7485GCG[8], NG_009014.2:g.7485GCG[9], NG_009014.2:g.7485GCG[10], NG_009014.2:g.7485GCG[11], NG_009014.2:g.7485GCG[12], NG_009014.2:g.7485GCG[13], NG_009014.2:g.7485GCG[14], NG_009014.2:g.7485GCG[15], NG_009014.2:g.7485GCG[16], NG_009014.2:g.7485GCG[18], NG_009014.2:g.7485GCG[19], NG_009014.2:g.7485GCG[20], NG_009014.2:g.7485GCG[21], NG_009014.2:g.7485GCG[22], NG_009014.2:g.7485GCG[23], NG_009014.2:g.7485GCG[24], NG_009014.2:g.7485GCG[25], NG_009014.2:g.7485GCG[26], NG_009014.2:g.7485GCG[27], NG_009014.2:g.7485GCG[28], NG_009014.2:g.7485GCG[29], NG_009014.2:g.7485GCG[32], NM_000044.6:c.1370GCG[3], NM_000044.6:c.1370GCG[4], NM_000044.6:c.1370GCG[5], NM_000044.6:c.1370GCG[6], NM_000044.6:c.1370GCG[7], NM_000044.6:c.1370GCG[8], NM_000044.6:c.1370GCG[9], NM_000044.6:c.1370GCG[10], NM_000044.6:c.1370GCG[11], NM_000044.6:c.1370GCG[12], NM_000044.6:c.1370GCG[13], NM_000044.6:c.1370GCG[14], NM_000044.6:c.1370GCG[15], NM_000044.6:c.1370GCG[16], NM_000044.6:c.1370GCG[18], NM_000044.6:c.1370GCG[19], NM_000044.6:c.1370GCG[20], NM_000044.6:c.1370GCG[21], NM_000044.6:c.1370GCG[22], NM_000044.6:c.1370GCG[23], NM_000044.6:c.1370GCG[24], NM_000044.6:c.1370GCG[25], NM_000044.6:c.1370GCG[26], NM_000044.6:c.1370GCG[27], NM_000044.6:c.1370GCG[28], NM_000044.6:c.1370GCG[29], NM_000044.6:c.1370GCG[32], NM_000044.5:c.1370GCG[3], NM_000044.5:c.1370GCG[4], NM_000044.5:c.1370GCG[5], NM_000044.5:c.1370GCG[6], NM_000044.5:c.1370GCG[7], NM_000044.5:c.1370GCG[8], NM_000044.5:c.1370GCG[9], NM_000044.5:c.1370GCG[10], NM_000044.5:c.1370GCG[11], NM_000044.5:c.1370GCG[12], NM_000044.5:c.1370GCG[13], NM_000044.5:c.1370GCG[14], NM_000044.5:c.1370GCG[15], NM_000044.5:c.1370GCG[16], NM_000044.5:c.1370GCG[18], NM_000044.5:c.1370GCG[19], NM_000044.5:c.1370GCG[20], NM_000044.5:c.1370GCG[21], NM_000044.5:c.1370GCG[22], NM_000044.5:c.1370GCG[23], NM_000044.5:c.1370GCG[24], NM_000044.5:c.1370GCG[25], NM_000044.5:c.1370GCG[26], NM_000044.5:c.1370GCG[27], NM_000044.5:c.1370GCG[28], NM_000044.5:c.1370GCG[29], NM_000044.5:c.1370GCG[32], NM_000044.4:c.1370GCG[3], NM_000044.4:c.1370GCG[4], NM_000044.4:c.1370GCG[5], NM_000044.4:c.1370GCG[6], NM_000044.4:c.1370GCG[7], NM_000044.4:c.1370GCG[8], NM_000044.4:c.1370GCG[9], NM_000044.4:c.1370GCG[10], NM_000044.4:c.1370GCG[11], NM_000044.4:c.1370GCG[12], NM_000044.4:c.1370GCG[13], NM_000044.4:c.1370GCG[14], NM_000044.4:c.1370GCG[15], NM_000044.4:c.1370GCG[16], NM_000044.4:c.1370GCG[18], NM_000044.4:c.1370GCG[19], NM_000044.4:c.1370GCG[20], NM_000044.4:c.1370GCG[21], NM_000044.4:c.1370GCG[22], NM_000044.4:c.1370GCG[23], NM_000044.4:c.1370GCG[24], NM_000044.4:c.1370GCG[25], NM_000044.4:c.1370GCG[26], NM_000044.4:c.1370GCG[27], NM_000044.4:c.1370GCG[28], NM_000044.4:c.1370GCG[29], NM_000044.4:c.1370GCG[32], NM_000044.3:c.1370GCG[3], NM_000044.3:c.1370GCG[4], NM_000044.3:c.1370GCG[5], NM_000044.3:c.1370GCG[6], NM_000044.3:c.1370GCG[7], NM_000044.3:c.1370GCG[8], NM_000044.3:c.1370GCG[9], NM_000044.3:c.1370GCG[10], NM_000044.3:c.1370GCG[11], NM_000044.3:c.1370GCG[12], NM_000044.3:c.1370GCG[13], NM_000044.3:c.1370GCG[14], NM_000044.3:c.1370GCG[15], NM_000044.3:c.1370GCG[16], NM_000044.3:c.1370GCG[18], NM_000044.3:c.1370GCG[19], NM_000044.3:c.1370GCG[20], NM_000044.3:c.1370GCG[21], NM_000044.3:c.1370GCG[22], NM_000044.3:c.1370GCG[23], NM_000044.3:c.1370GCG[24], NM_000044.3:c.1370GCG[25], NM_000044.3:c.1370GCG[26], NM_000044.3:c.1370GCG[27], NM_000044.3:c.1370GCG[28], NM_000044.3:c.1370GCG[29], NM_000044.3:c.1370GCG[32], NM_001011645.3:c.-414GCG[3], NM_001011645.3:c.-414GCG[4], NM_001011645.3:c.-414GCG[5], NM_001011645.3:c.-414GCG[6], NM_001011645.3:c.-414GCG[7], NM_001011645.3:c.-414GCG[8], NM_001011645.3:c.-414GCG[9], NM_001011645.3:c.-414GCG[10], NM_001011645.3:c.-414GCG[11], NM_001011645.3:c.-414GCG[12], NM_001011645.3:c.-414GCG[13], NM_001011645.3:c.-414GCG[14], NM_001011645.3:c.-414GCG[15], NM_001011645.3:c.-414GCG[16], NM_001011645.3:c.-414GCG[18], NM_001011645.3:c.-414GCG[19], NM_001011645.3:c.-414GCG[20], NM_001011645.3:c.-414GCG[21], NM_001011645.3:c.-414GCG[22], NM_001011645.3:c.-414GCG[23], NM_001011645.3:c.-414GCG[24], NM_001011645.3:c.-414GCG[25], NM_001011645.3:c.-414GCG[26], NM_001011645.3:c.-414GCG[27], NM_001011645.3:c.-414GCG[28], NM_001011645.3:c.-414GCG[29], NM_001011645.3:c.-414GCG[32], NM_001348061.1:c.1370GCG[3], NM_001348061.1:c.1370GCG[4], NM_001348061.1:c.1370GCG[5], NM_001348061.1:c.1370GCG[6], NM_001348061.1:c.1370GCG[7], NM_001348061.1:c.1370GCG[8], NM_001348061.1:c.1370GCG[9], NM_001348061.1:c.1370GCG[10], NM_001348061.1:c.1370GCG[11], NM_001348061.1:c.1370GCG[12], NM_001348061.1:c.1370GCG[13], NM_001348061.1:c.1370GCG[14], NM_001348061.1:c.1370GCG[15], NM_001348061.1:c.1370GCG[16], NM_001348061.1:c.1370GCG[18], NM_001348061.1:c.1370GCG[19], NM_001348061.1:c.1370GCG[20], NM_001348061.1:c.1370GCG[21], NM_001348061.1:c.1370GCG[22], NM_001348061.1:c.1370GCG[23], NM_001348061.1:c.1370GCG[24], NM_001348061.1:c.1370GCG[25], NM_001348061.1:c.1370GCG[26], NM_001348061.1:c.1370GCG[27], NM_001348061.1:c.1370GCG[28], NM_001348061.1:c.1370GCG[29], NM_001348061.1:c.1370GCG[32], NM_001348064.1:c.1370GCG[3], NM_001348064.1:c.1370GCG[4], NM_001348064.1:c.1370GCG[5], NM_001348064.1:c.1370GCG[6], NM_001348064.1:c.1370GCG[7], NM_001348064.1:c.1370GCG[8], NM_001348064.1:c.1370GCG[9], NM_001348064.1:c.1370GCG[10], NM_001348064.1:c.1370GCG[11], NM_001348064.1:c.1370GCG[12], NM_001348064.1:c.1370GCG[13], NM_001348064.1:c.1370GCG[14], NM_001348064.1:c.1370GCG[15], NM_001348064.1:c.1370GCG[16], NM_001348064.1:c.1370GCG[18], NM_001348064.1:c.1370GCG[19], NM_001348064.1:c.1370GCG[20], NM_001348064.1:c.1370GCG[21], NM_001348064.1:c.1370GCG[22], NM_001348064.1:c.1370GCG[23], NM_001348064.1:c.1370GCG[24], NM_001348064.1:c.1370GCG[25], NM_001348064.1:c.1370GCG[26], NM_001348064.1:c.1370GCG[27], NM_001348064.1:c.1370GCG[28], NM_001348064.1:c.1370GCG[29], NM_001348064.1:c.1370GCG[32], NM_001348063.1:c.1370GCG[3], NM_001348063.1:c.1370GCG[4], NM_001348063.1:c.1370GCG[5], NM_001348063.1:c.1370GCG[6], NM_001348063.1:c.1370GCG[7], NM_001348063.1:c.1370GCG[8], NM_001348063.1:c.1370GCG[9], NM_001348063.1:c.1370GCG[10], NM_001348063.1:c.1370GCG[11], NM_001348063.1:c.1370GCG[12], NM_001348063.1:c.1370GCG[13], NM_001348063.1:c.1370GCG[14], NM_001348063.1:c.1370GCG[15], NM_001348063.1:c.1370GCG[16], NM_001348063.1:c.1370GCG[18], NM_001348063.1:c.1370GCG[19], NM_001348063.1:c.1370GCG[20], NM_001348063.1:c.1370GCG[21], NM_001348063.1:c.1370GCG[22], NM_001348063.1:c.1370GCG[23], NM_001348063.1:c.1370GCG[24], NM_001348063.1:c.1370GCG[25], NM_001348063.1:c.1370GCG[26], NM_001348063.1:c.1370GCG[27], NM_001348063.1:c.1370GCG[28], NM_001348063.1:c.1370GCG[29], NM_001348063.1:c.1370GCG[32], NP_000035.2:p.Gly460_Gly473del, NP_000035.2:p.Gly461_Gly473del, NP_000035.2:p.Gly462_Gly473del, NP_000035.2:p.Gly463_Gly473del, NP_000035.2:p.Gly464_Gly473del, NP_000035.2:p.Gly465_Gly473del, NP_000035.2:p.Gly466_Gly473del, NP_000035.2:p.Gly467_Gly473del, NP_000035.2:p.Gly468_Gly473del, NP_000035.2:p.Gly469_Gly473del, NP_000035.2:p.Gly470_Gly473del, NP_000035.2:p.Gly471_Gly473del, NP_000035.2:p.Gly472_Gly473del, NP_000035.2:p.Gly473del, NP_000035.2:p.Gly473dup, NP_000035.2:p.Gly472_Gly473dup, NP_000035.2:p.Gly471_Gly473dup, NP_000035.2:p.Gly470_Gly473dup, NP_000035.2:p.Gly469_Gly473dup, NP_000035.2:p.Gly468_Gly473dup, NP_000035.2:p.Gly467_Gly473dup, NP_000035.2:p.Gly466_Gly473dup, NP_000035.2:p.Gly465_Gly473dup, NP_000035.2:p.Gly464_Gly473dup, NP_000035.2:p.Gly463_Gly473dup, NP_000035.2:p.Gly462_Gly473dup, NP_000035.2:p.Gly459_Gly473dup, NP_001334990.1:p.Gly460_Gly473del, NP_001334990.1:p.Gly461_Gly473del, NP_001334990.1:p.Gly462_Gly473del, NP_001334990.1:p.Gly463_Gly473del, NP_001334990.1:p.Gly464_Gly473del, NP_001334990.1:p.Gly465_Gly473del, NP_001334990.1:p.Gly466_Gly473del, NP_001334990.1:p.Gly467_Gly473del, NP_001334990.1:p.Gly468_Gly473del, NP_001334990.1:p.Gly469_Gly473del, NP_001334990.1:p.Gly470_Gly473del, NP_001334990.1:p.Gly471_Gly473del, NP_001334990.1:p.Gly472_Gly473del, NP_001334990.1:p.Gly473del, NP_001334990.1:p.Gly473dup, NP_001334990.1:p.Gly472_Gly473dup, NP_001334990.1:p.Gly471_Gly473dup, NP_001334990.1:p.Gly470_Gly473dup, NP_001334990.1:p.Gly469_Gly473dup, NP_001334990.1:p.Gly468_Gly473dup, NP_001334990.1:p.Gly467_Gly473dup, NP_001334990.1:p.Gly466_Gly473dup, NP_001334990.1:p.Gly465_Gly473dup, NP_001334990.1:p.Gly464_Gly473dup, NP_001334990.1:p.Gly463_Gly473dup, NP_001334990.1:p.Gly462_Gly473dup, NP_001334990.1:p.Gly459_Gly473dup, NP_001334993.1:p.Gly460_Gly473del, NP_001334993.1:p.Gly461_Gly473del, NP_001334993.1:p.Gly462_Gly473del, NP_001334993.1:p.Gly463_Gly473del, NP_001334993.1:p.Gly464_Gly473del, NP_001334993.1:p.Gly465_Gly473del, NP_001334993.1:p.Gly466_Gly473del, NP_001334993.1:p.Gly467_Gly473del, NP_001334993.1:p.Gly468_Gly473del, NP_001334993.1:p.Gly469_Gly473del, NP_001334993.1:p.Gly470_Gly473del, NP_001334993.1:p.Gly471_Gly473del, NP_001334993.1:p.Gly472_Gly473del, NP_001334993.1:p.Gly473del, NP_001334993.1:p.Gly473dup, NP_001334993.1:p.Gly472_Gly473dup, NP_001334993.1:p.Gly471_Gly473dup, NP_001334993.1:p.Gly470_Gly473dup, NP_001334993.1:p.Gly469_Gly473dup, NP_001334993.1:p.Gly468_Gly473dup, NP_001334993.1:p.Gly467_Gly473dup, NP_001334993.1:p.Gly466_Gly473dup, NP_001334993.1:p.Gly465_Gly473dup, NP_001334993.1:p.Gly464_Gly473dup, NP_001334993.1:p.Gly463_Gly473dup, NP_001334993.1:p.Gly462_Gly473dup, NP_001334993.1:p.Gly459_Gly473dup, NP_001334992.1:p.Gly460_Gly473del, NP_001334992.1:p.Gly461_Gly473del, NP_001334992.1:p.Gly462_Gly473del, NP_001334992.1:p.Gly463_Gly473del, NP_001334992.1:p.Gly464_Gly473del, NP_001334992.1:p.Gly465_Gly473del, NP_001334992.1:p.Gly466_Gly473del, NP_001334992.1:p.Gly467_Gly473del, NP_001334992.1:p.Gly468_Gly473del, NP_001334992.1:p.Gly469_Gly473del, NP_001334992.1:p.Gly470_Gly473del, NP_001334992.1:p.Gly471_Gly473del, NP_001334992.1:p.Gly472_Gly473del, NP_001334992.1:p.Gly473del, NP_001334992.1:p.Gly473dup, NP_001334992.1:p.Gly472_Gly473dup, NP_001334992.1:p.Gly471_Gly473dup, NP_001334992.1:p.Gly470_Gly473dup, NP_001334992.1:p.Gly469_Gly473dup, NP_001334992.1:p.Gly468_Gly473dup, NP_001334992.1:p.Gly467_Gly473dup, NP_001334992.1:p.Gly466_Gly473dup, NP_001334992.1:p.Gly465_Gly473dup, NP_001334992.1:p.Gly464_Gly473dup, NP_001334992.1:p.Gly463_Gly473dup, NP_001334992.1:p.Gly462_Gly473dup, NP_001334992.1:p.Gly459_Gly473dup

                                    18.

                                    rs1476483804 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      X:67546178 (GRCh38)
                                      X:66766020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:67546177:C:A,NC_000023.11:67546177:C:G,NC_000023.11:67546177:C:T
                                      Gene:
                                      AR (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000111/1 (ALFA)
                                      T=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.67546178C>A, NC_000023.11:g.67546178C>G, NC_000023.11:g.67546178C>T, NC_000023.10:g.66766020C>A, NC_000023.10:g.66766020C>G, NC_000023.10:g.66766020C>T, NG_009014.2:g.7147C>A, NG_009014.2:g.7147C>G, NG_009014.2:g.7147C>T, NM_000044.6:c.1032C>A, NM_000044.6:c.1032C>G, NM_000044.6:c.1032C>T, NM_000044.5:c.1032C>A, NM_000044.5:c.1032C>G, NM_000044.5:c.1032C>T, NM_000044.4:c.1032C>A, NM_000044.4:c.1032C>G, NM_000044.4:c.1032C>T, NM_000044.3:c.1032C>A, NM_000044.3:c.1032C>G, NM_000044.3:c.1032C>T, NM_001011645.3:c.-752C>A, NM_001011645.3:c.-752C>G, NM_001011645.3:c.-752C>T, NM_001348061.1:c.1032C>A, NM_001348061.1:c.1032C>G, NM_001348061.1:c.1032C>T, NM_001348064.1:c.1032C>A, NM_001348064.1:c.1032C>G, NM_001348064.1:c.1032C>T, NM_001348063.1:c.1032C>A, NM_001348063.1:c.1032C>G, NM_001348063.1:c.1032C>T

                                      19.

                                      rs1475542278 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->AGGCGG [Show Flanks]
                                        Chromosome:
                                        X:67546538 (GRCh38)
                                        X:66766381 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:67546538:GGCGG:GGCGGAGGCGG
                                        Gene:
                                        AR (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_insertion,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGCGGAGGCGG=0./0 (ALFA)
                                        GGCGGA=0.00004/4 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1475216129 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          X:67546086 (GRCh38)
                                          X:66765928 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:67546085:G:A,NC_000023.11:67546085:G:C
                                          Gene:
                                          AR (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000005/1 (GnomAD_exomes)
                                          A=0.000342/1 (KOREAN)
                                          HGVS:

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