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Items: 1 to 20 of 334

1.

rs1490961993 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:28718255 (GRCh38)
    17:27045273 (GRCh37)
    Canonical SPDI:
    NC_000017.11:28718254:G:A
    Gene:
    RPL23A (Varview), RAB34 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    HGVS:

    2.

    rs1489865736 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:28718238 (GRCh38)
      17:27045256 (GRCh37)
      Canonical SPDI:
      NC_000017.11:28718237:C:T
      Gene:
      RPL23A (Varview), RAB34 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000006/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1488600743 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:28715050 (GRCh38)
        17:27042068 (GRCh37)
        Canonical SPDI:
        NC_000017.11:28715049:C:T
        Gene:
        RAB34 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.28715050C>T, NC_000017.10:g.27042068C>T, NM_031934.6:c.586G>A, NM_031934.5:c.586G>A, NM_001256281.3:c.*434G>A, NM_001256281.2:c.*434G>A, NM_001144942.2:c.562G>A, NM_001144942.1:c.562G>A, XM_024450990.2:c.316G>A, XM_024450990.1:c.316G>A, NM_001256277.2:c.586G>A, NM_001256277.1:c.586G>A, XM_024450973.2:c.760G>A, XM_024450973.1:c.760G>A, XM_024450975.2:c.736G>A, XM_024450975.1:c.736G>A, NM_001142624.2:c.733G>A, NM_001256276.2:c.520G>A, NM_001256276.1:c.520G>A, XM_024450976.2:c.691G>A, XM_024450976.1:c.691G>A, XM_024450984.2:c.586G>A, XM_024450984.1:c.586G>A, NR_024574.1:n.1188G>A, NR_024578.1:n.1164G>A, XM_047436878.1:c.589G>A, NR_024575.1:n.857G>A, XM_047436877.1:c.589G>A, XM_047436881.1:c.586G>A, NR_024579.1:n.791G>A, NM_001136045.1:c.586G>A, XM_047436882.1:c.565G>A, XM_047436884.1:c.562G>A, NM_001144943.1:c.757G>A, XM_047436886.1:c.520G>A, XM_047436879.1:c.589G>A, XM_047436876.1:c.667G>A, XM_047436883.1:c.565G>A, XM_047436885.1:c.562G>A, XM_047436880.1:c.589G>A, NM_001256278.1:c.586G>A, NP_114140.4:p.Ala196Thr, NP_001138414.1:p.Ala188Thr, XP_024306758.1:p.Ala106Thr, NP_001243206.1:p.Ala196Thr, XP_024306741.1:p.Ala254Thr, XP_024306743.1:p.Ala246Thr, NP_001136096.2:p.Ala245Thr, NP_001243205.1:p.Ala174Thr, XP_024306744.1:p.Ala231Thr, XP_024306752.1:p.Ala196Thr, XP_047292834.1:p.Ala197Thr, XP_047292833.1:p.Ala197Thr, XP_047292837.1:p.Ala196Thr, XP_047292838.1:p.Ala189Thr, XP_047292840.1:p.Ala188Thr, NP_001138415.1:p.Ala253Thr, XP_047292842.1:p.Ala174Thr, XP_047292835.1:p.Ala197Thr, XP_047292832.1:p.Ala223Thr, XP_047292839.1:p.Ala189Thr, XP_047292841.1:p.Ala188Thr, XP_047292836.1:p.Ala197Thr, NP_001243207.1:p.Ala196Thr

        4.

        rs1483990202 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:28716030 (GRCh38)
          17:27043048 (GRCh37)
          Canonical SPDI:
          NC_000017.11:28716029:C:T
          Gene:
          RAB34 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,5_prime_UTR_variant,3_prime_UTR_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          T=0.000342/1 (KOREAN)
          HGVS:
          NC_000017.11:g.28716030C>T, NC_000017.10:g.27043048C>T, NM_031934.6:c.175G>A, NM_031934.5:c.175G>A, NM_001256281.3:c.*23G>A, NM_001256281.2:c.*23G>A, NM_001256281.1:c.*23G>A, NM_001144942.2:c.175G>A, NM_001144942.1:c.175G>A, XM_024450990.2:c.-96G>A, XM_024450990.1:c.-96G>A, NM_001256277.2:c.175G>A, NM_001256277.1:c.175G>A, XM_024450973.2:c.349G>A, XM_024450973.1:c.349G>A, XM_024450975.2:c.349G>A, XM_024450975.1:c.349G>A, NM_001142624.2:c.346G>A, XM_024450984.2:c.175G>A, XM_024450984.1:c.175G>A, NM_001142625.2:c.349G>A, NR_024574.1:n.777G>A, NR_024578.1:n.777G>A, XM_047436878.1:c.178G>A, NR_024575.1:n.446G>A, XM_047436877.1:c.178G>A, XM_047436881.1:c.175G>A, NM_001136045.1:c.175G>A, XM_047436882.1:c.178G>A, XM_047436884.1:c.175G>A, NM_001144943.1:c.346G>A, XM_047436879.1:c.178G>A, XM_047436883.1:c.178G>A, XM_047436885.1:c.175G>A, XM_047436880.1:c.178G>A, NM_001256278.1:c.175G>A, NP_114140.4:p.Gly59Arg, NP_001138414.1:p.Gly59Arg, NP_001243206.1:p.Gly59Arg, XP_024306741.1:p.Gly117Arg, XP_024306743.1:p.Gly117Arg, NP_001136096.2:p.Gly116Arg, XP_024306752.1:p.Gly59Arg, NP_001136097.2:p.Gly117Arg, XP_047292834.1:p.Gly60Arg, XP_047292833.1:p.Gly60Arg, XP_047292837.1:p.Gly59Arg, XP_047292838.1:p.Gly60Arg, XP_047292840.1:p.Gly59Arg, NP_001138415.1:p.Gly116Arg, XP_047292835.1:p.Gly60Arg, XP_047292839.1:p.Gly60Arg, XP_047292841.1:p.Gly59Arg, XP_047292836.1:p.Gly60Arg, NP_001243207.1:p.Gly59Arg

          5.

          rs1481609604 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            17:28718189 (GRCh38)
            17:27045207 (GRCh37)
            Canonical SPDI:
            NC_000017.11:28718188:G:C
            Gene:
            RPL23A (Varview), RAB34 (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000009/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1480920063 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:28714795 (GRCh38)
              17:27041813 (GRCh37)
              Canonical SPDI:
              NC_000017.11:28714794:A:G
              Gene:
              RAB34 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000017.11:g.28714795A>G, NC_000017.10:g.27041813A>G, NM_031934.6:c.710T>C, NM_031934.5:c.710T>C, NM_001256281.3:c.*558T>C, NM_001256281.2:c.*558T>C, NM_001144942.2:c.686T>C, NM_001144942.1:c.686T>C, XM_024450990.2:c.440T>C, XM_024450990.1:c.440T>C, NM_001256277.2:c.710T>C, NM_001256277.1:c.710T>C, XM_024450973.2:c.884T>C, XM_024450973.1:c.884T>C, XM_024450975.2:c.860T>C, XM_024450975.1:c.860T>C, NM_001142624.2:c.857T>C, NM_001256276.2:c.644T>C, NM_001256276.1:c.644T>C, XM_024450976.2:c.815T>C, XM_024450976.1:c.815T>C, XM_024450984.2:c.710T>C, XM_024450984.1:c.710T>C, NR_024574.1:n.1312T>C, NR_024578.1:n.1288T>C, XM_047436878.1:c.713T>C, NR_024575.1:n.981T>C, XM_047436877.1:c.713T>C, XM_047436881.1:c.710T>C, NR_024579.1:n.915T>C, NM_001136045.1:c.710T>C, XM_047436882.1:c.689T>C, XM_047436884.1:c.686T>C, NM_001144943.1:c.881T>C, XM_047436886.1:c.644T>C, XM_047436879.1:c.713T>C, XM_047436876.1:c.791T>C, XM_047436883.1:c.689T>C, XM_047436885.1:c.686T>C, XM_047436880.1:c.713T>C, NM_001256278.1:c.710T>C, NP_114140.4:p.Val237Ala, NP_001138414.1:p.Val229Ala, XP_024306758.1:p.Val147Ala, NP_001243206.1:p.Val237Ala, XP_024306741.1:p.Val295Ala, XP_024306743.1:p.Val287Ala, NP_001136096.2:p.Val286Ala, NP_001243205.1:p.Val215Ala, XP_024306744.1:p.Val272Ala, XP_024306752.1:p.Val237Ala, XP_047292834.1:p.Val238Ala, XP_047292833.1:p.Val238Ala, XP_047292837.1:p.Val237Ala, XP_047292838.1:p.Val230Ala, XP_047292840.1:p.Val229Ala, NP_001138415.1:p.Val294Ala, XP_047292842.1:p.Val215Ala, XP_047292835.1:p.Val238Ala, XP_047292832.1:p.Val264Ala, XP_047292839.1:p.Val230Ala, XP_047292841.1:p.Val229Ala, XP_047292836.1:p.Val238Ala, NP_001243207.1:p.Val237Ala

              7.

              rs1479942630 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:28715211 (GRCh38)
                17:27042229 (GRCh37)
                Canonical SPDI:
                NC_000017.11:28715210:G:A
                Gene:
                RAB34 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000017.11:g.28715211G>A, NC_000017.10:g.27042229G>A, NM_031934.6:c.497C>T, NM_031934.5:c.497C>T, NM_001256281.3:c.*345C>T, NM_001256281.2:c.*345C>T, XM_024450990.2:c.227C>T, XM_024450990.1:c.227C>T, NM_001256277.2:c.497C>T, NM_001256277.1:c.497C>T, XM_024450973.2:c.671C>T, XM_024450973.1:c.671C>T, NM_001256276.2:c.431C>T, NM_001256276.1:c.431C>T, XM_024450976.2:c.602C>T, XM_024450976.1:c.602C>T, XM_024450984.2:c.497C>T, XM_024450984.1:c.497C>T, NM_001142625.2:c.671C>T, NR_024574.1:n.1099C>T, XM_047436878.1:c.500C>T, NR_024575.1:n.768C>T, XM_047436877.1:c.500C>T, XM_047436881.1:c.497C>T, NR_024579.1:n.702C>T, NM_001136045.1:c.497C>T, NM_001144943.1:c.668C>T, XM_047436886.1:c.431C>T, XM_047436879.1:c.500C>T, XM_047436880.1:c.500C>T, NM_001256278.1:c.497C>T, NP_114140.4:p.Ser166Phe, XP_024306758.1:p.Ser76Phe, NP_001243206.1:p.Ser166Phe, XP_024306741.1:p.Ser224Phe, NP_001243205.1:p.Ser144Phe, XP_024306744.1:p.Ser201Phe, XP_024306752.1:p.Ser166Phe, NP_001136097.2:p.Ser224Phe, XP_047292834.1:p.Ser167Phe, XP_047292833.1:p.Ser167Phe, XP_047292837.1:p.Ser166Phe, NP_001138415.1:p.Ser223Phe, XP_047292842.1:p.Ser144Phe, XP_047292835.1:p.Ser167Phe, XP_047292836.1:p.Ser167Phe, NP_001243207.1:p.Ser166Phe

                8.

                rs1477051432 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  17:28716977 (GRCh38)
                  17:27043995 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:28716976:G:A,NC_000017.11:28716976:G:C
                  Gene:
                  RAB34 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000043/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000012/3 (GnomAD_exomes)
                  A=0.000014/2 (GnomAD)
                  C=0.000283/5 (TOMMO)
                  HGVS:
                  NC_000017.11:g.28716977G>A, NC_000017.11:g.28716977G>C, NC_000017.10:g.27043995G>A, NC_000017.10:g.27043995G>C, NM_031934.6:c.72C>T, NM_031934.6:c.72C>G, NM_031934.5:c.72C>T, NM_031934.5:c.72C>G, NM_001256281.3:c.514C>T, NM_001256281.3:c.514C>G, NM_001256281.2:c.514C>T, NM_001256281.2:c.514C>G, NM_001256281.1:c.514C>T, NM_001256281.1:c.514C>G, NM_001144942.2:c.72C>T, NM_001144942.2:c.72C>G, NM_001144942.1:c.72C>T, NM_001144942.1:c.72C>G, NM_001256277.2:c.72C>T, NM_001256277.2:c.72C>G, NM_001256277.1:c.72C>T, NM_001256277.1:c.72C>G, XM_024450973.2:c.243C>T, XM_024450973.2:c.243C>G, XM_024450973.1:c.243C>T, XM_024450973.1:c.243C>G, XM_024450975.2:c.243C>T, XM_024450975.2:c.243C>G, XM_024450975.1:c.243C>T, XM_024450975.1:c.243C>G, NM_001142624.2:c.243C>T, NM_001142624.2:c.243C>G, NM_001256276.2:c.72C>T, NM_001256276.2:c.72C>G, NM_001256276.1:c.72C>T, NM_001256276.1:c.72C>G, XM_024450976.2:c.243C>T, XM_024450976.2:c.243C>G, XM_024450976.1:c.243C>T, XM_024450976.1:c.243C>G, XM_024450984.2:c.72C>T, XM_024450984.2:c.72C>G, XM_024450984.1:c.72C>T, XM_024450984.1:c.72C>G, NM_001142625.2:c.243C>T, NM_001142625.2:c.243C>G, NR_024574.1:n.674C>T, NR_024574.1:n.674C>G, NR_024578.1:n.674C>T, NR_024578.1:n.674C>G, XM_047436878.1:c.72C>T, XM_047436878.1:c.72C>G, NR_024575.1:n.343C>T, NR_024575.1:n.343C>G, XM_047436877.1:c.72C>T, XM_047436877.1:c.72C>G, XM_047436881.1:c.72C>T, XM_047436881.1:c.72C>G, NR_024579.1:n.343C>T, NR_024579.1:n.343C>G, NM_001136045.1:c.72C>T, NM_001136045.1:c.72C>G, XM_047436882.1:c.72C>T, XM_047436882.1:c.72C>G, XM_047436884.1:c.72C>T, XM_047436884.1:c.72C>G, NM_001144943.1:c.243C>T, NM_001144943.1:c.243C>G, XM_047436886.1:c.72C>T, XM_047436886.1:c.72C>G, XM_047436879.1:c.72C>T, XM_047436879.1:c.72C>G, XM_047436876.1:c.243C>T, XM_047436876.1:c.243C>G, XM_047436883.1:c.72C>T, XM_047436883.1:c.72C>G, XM_047436885.1:c.72C>T, XM_047436885.1:c.72C>G, NP_001243210.1:p.Arg172Cys, NP_001243210.1:p.Arg172Gly

                  9.

                  rs1473732725 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:28715702 (GRCh38)
                    17:27042720 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:28715701:C:T
                    Gene:
                    RAB34 (Varview)
                    Functional Consequence:
                    stop_gained,coding_sequence_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000017.11:g.28715702C>T, NC_000017.10:g.27042720C>T, NM_031934.6:c.318G>A, NM_031934.5:c.318G>A, NM_001256281.3:c.*166G>A, NM_001256281.2:c.*166G>A, NM_001144942.2:c.318G>A, NM_001144942.1:c.318G>A, XM_024450990.2:c.48G>A, XM_024450990.1:c.48G>A, NM_001256277.2:c.318G>A, NM_001256277.1:c.318G>A, XM_024450973.2:c.492G>A, XM_024450973.1:c.492G>A, XM_024450975.2:c.492G>A, XM_024450975.1:c.492G>A, NM_001142624.2:c.489G>A, NM_001256276.2:c.252G>A, NM_001256276.1:c.252G>A, XM_024450976.2:c.423G>A, XM_024450976.1:c.423G>A, XM_024450984.2:c.318G>A, XM_024450984.1:c.318G>A, NM_001142625.2:c.492G>A, NR_024574.1:n.920G>A, NR_024578.1:n.920G>A, XM_047436878.1:c.321G>A, NR_024575.1:n.589G>A, XM_047436877.1:c.321G>A, XM_047436881.1:c.318G>A, NR_024579.1:n.523G>A, NM_001136045.1:c.318G>A, XM_047436882.1:c.321G>A, XM_047436884.1:c.318G>A, NM_001144943.1:c.489G>A, XM_047436886.1:c.252G>A, XM_047436879.1:c.321G>A, XM_047436876.1:c.423G>A, XM_047436883.1:c.321G>A, XM_047436885.1:c.318G>A, XM_047436880.1:c.321G>A, NM_001256278.1:c.318G>A, NP_114140.4:p.Trp106Ter, NP_001138414.1:p.Trp106Ter, XP_024306758.1:p.Trp16Ter, NP_001243206.1:p.Trp106Ter, XP_024306741.1:p.Trp164Ter, XP_024306743.1:p.Trp164Ter, NP_001136096.2:p.Trp163Ter, NP_001243205.1:p.Trp84Ter, XP_024306744.1:p.Trp141Ter, XP_024306752.1:p.Trp106Ter, NP_001136097.2:p.Trp164Ter, XP_047292834.1:p.Trp107Ter, XP_047292833.1:p.Trp107Ter, XP_047292837.1:p.Trp106Ter, XP_047292838.1:p.Trp107Ter, XP_047292840.1:p.Trp106Ter, NP_001138415.1:p.Trp163Ter, XP_047292842.1:p.Trp84Ter, XP_047292835.1:p.Trp107Ter, XP_047292832.1:p.Trp141Ter, XP_047292839.1:p.Trp107Ter, XP_047292841.1:p.Trp106Ter, XP_047292836.1:p.Trp107Ter, NP_001243207.1:p.Trp106Ter

                    10.

                    rs1472270174 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:28717222 (GRCh38)
                      17:27044240 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:28717221:C:T
                      Gene:
                      RAB34 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000009/2 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.28717222C>T, NC_000017.10:g.27044240C>T, NM_031934.6:c.45G>A, NM_031934.5:c.45G>A, NM_001256281.3:c.487G>A, NM_001256281.2:c.487G>A, NM_001256281.1:c.487G>A, NM_001144942.2:c.45G>A, NM_001144942.1:c.45G>A, XM_024450990.2:c.-134G>A, XM_024450990.1:c.-134G>A, NM_001256277.2:c.45G>A, NM_001256277.1:c.45G>A, XM_024450973.2:c.216G>A, XM_024450973.1:c.216G>A, XM_024450975.2:c.216G>A, XM_024450975.1:c.216G>A, NM_001142624.2:c.216G>A, NM_001256276.2:c.45G>A, NM_001256276.1:c.45G>A, XM_024450976.2:c.216G>A, XM_024450976.1:c.216G>A, XM_024450984.2:c.45G>A, XM_024450984.1:c.45G>A, NM_001142625.2:c.216G>A, NR_024574.1:n.647G>A, NR_024578.1:n.647G>A, XM_047436878.1:c.45G>A, NR_024575.1:n.316G>A, XM_047436877.1:c.45G>A, XM_047436881.1:c.45G>A, NR_024579.1:n.316G>A, NM_001136045.1:c.45G>A, XM_047436882.1:c.45G>A, XM_047436884.1:c.45G>A, NM_001144943.1:c.216G>A, XM_047436886.1:c.45G>A, XM_047436879.1:c.45G>A, XM_047436876.1:c.216G>A, XM_047436883.1:c.45G>A, XM_047436885.1:c.45G>A, NP_001243210.1:p.Ala163Thr

                      11.

                      rs1471709541 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:28716047 (GRCh38)
                        17:27043065 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:28716046:G:A
                        Gene:
                        RAB34 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,5_prime_UTR_variant,3_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.28716047G>A, NC_000017.10:g.27043065G>A, NM_031934.6:c.158C>T, NM_031934.5:c.158C>T, NM_001256281.3:c.*6C>T, NM_001256281.2:c.*6C>T, NM_001256281.1:c.*6C>T, NM_001144942.2:c.158C>T, NM_001144942.1:c.158C>T, XM_024450990.2:c.-113C>T, XM_024450990.1:c.-113C>T, NM_001256277.2:c.158C>T, NM_001256277.1:c.158C>T, XM_024450973.2:c.332C>T, XM_024450973.1:c.332C>T, XM_024450975.2:c.332C>T, XM_024450975.1:c.332C>T, NM_001142624.2:c.329C>T, XM_024450984.2:c.158C>T, XM_024450984.1:c.158C>T, NM_001142625.2:c.332C>T, NR_024574.1:n.760C>T, NR_024578.1:n.760C>T, XM_047436878.1:c.161C>T, NR_024575.1:n.429C>T, XM_047436877.1:c.161C>T, XM_047436881.1:c.158C>T, NM_001136045.1:c.158C>T, XM_047436882.1:c.161C>T, XM_047436884.1:c.158C>T, NM_001144943.1:c.329C>T, XM_047436879.1:c.161C>T, XM_047436883.1:c.161C>T, XM_047436885.1:c.158C>T, XM_047436880.1:c.161C>T, NM_001256278.1:c.158C>T, NP_114140.4:p.Ser53Phe, NP_001138414.1:p.Ser53Phe, NP_001243206.1:p.Ser53Phe, XP_024306741.1:p.Ser111Phe, XP_024306743.1:p.Ser111Phe, NP_001136096.2:p.Ser110Phe, XP_024306752.1:p.Ser53Phe, NP_001136097.2:p.Ser111Phe, XP_047292834.1:p.Ser54Phe, XP_047292833.1:p.Ser54Phe, XP_047292837.1:p.Ser53Phe, XP_047292838.1:p.Ser54Phe, XP_047292840.1:p.Ser53Phe, NP_001138415.1:p.Ser110Phe, XP_047292835.1:p.Ser54Phe, XP_047292839.1:p.Ser54Phe, XP_047292841.1:p.Ser53Phe, XP_047292836.1:p.Ser54Phe, NP_001243207.1:p.Ser53Phe

                        12.

                        rs1466509029 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          17:28715477 (GRCh38)
                          17:27042495 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:28715476:A:T
                          Gene:
                          RAB34 (Varview)
                          Functional Consequence:
                          missense_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.28715477A>T, NC_000017.10:g.27042495A>T, NM_031934.6:c.410T>A, NM_031934.5:c.410T>A, NM_001256281.3:c.*258T>A, NM_001256281.2:c.*258T>A, NM_001144942.2:c.410T>A, NM_001144942.1:c.410T>A, XM_024450990.2:c.140T>A, XM_024450990.1:c.140T>A, NM_001256277.2:c.410T>A, NM_001256277.1:c.410T>A, XM_024450973.2:c.584T>A, XM_024450973.1:c.584T>A, XM_024450975.2:c.584T>A, XM_024450975.1:c.584T>A, NM_001142624.2:c.581T>A, NM_001256276.2:c.344T>A, NM_001256276.1:c.344T>A, XM_024450976.2:c.515T>A, XM_024450976.1:c.515T>A, XM_024450984.2:c.410T>A, XM_024450984.1:c.410T>A, NM_001142625.2:c.584T>A, NR_024574.1:n.1012T>A, NR_024578.1:n.1012T>A, XM_047436878.1:c.413T>A, NR_024575.1:n.681T>A, XM_047436877.1:c.413T>A, XM_047436881.1:c.410T>A, NR_024579.1:n.615T>A, NM_001136045.1:c.410T>A, XM_047436882.1:c.413T>A, XM_047436884.1:c.410T>A, NM_001144943.1:c.581T>A, XM_047436886.1:c.344T>A, XM_047436879.1:c.413T>A, XM_047436876.1:c.515T>A, XM_047436883.1:c.413T>A, XM_047436885.1:c.410T>A, XM_047436880.1:c.413T>A, NM_001256278.1:c.410T>A, NP_114140.4:p.Val137Glu, NP_001138414.1:p.Val137Glu, XP_024306758.1:p.Val47Glu, NP_001243206.1:p.Val137Glu, XP_024306741.1:p.Val195Glu, XP_024306743.1:p.Val195Glu, NP_001136096.2:p.Val194Glu, NP_001243205.1:p.Val115Glu, XP_024306744.1:p.Val172Glu, XP_024306752.1:p.Val137Glu, NP_001136097.2:p.Val195Glu, XP_047292834.1:p.Val138Glu, XP_047292833.1:p.Val138Glu, XP_047292837.1:p.Val137Glu, XP_047292838.1:p.Val138Glu, XP_047292840.1:p.Val137Glu, NP_001138415.1:p.Val194Glu, XP_047292842.1:p.Val115Glu, XP_047292835.1:p.Val138Glu, XP_047292832.1:p.Val172Glu, XP_047292839.1:p.Val138Glu, XP_047292841.1:p.Val137Glu, XP_047292836.1:p.Val138Glu, NP_001243207.1:p.Val137Glu

                          13.

                          rs1457476368 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:28716968 (GRCh38)
                            17:27043986 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:28716967:G:A
                            Gene:
                            RAB34 (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000017.11:g.28716968G>A, NC_000017.10:g.27043986G>A, NM_031934.6:c.81C>T, NM_031934.5:c.81C>T, NM_001256281.3:c.523C>T, NM_001256281.2:c.523C>T, NM_001256281.1:c.523C>T, NM_001144942.2:c.81C>T, NM_001144942.1:c.81C>T, NM_001256277.2:c.81C>T, NM_001256277.1:c.81C>T, XM_024450973.2:c.252C>T, XM_024450973.1:c.252C>T, XM_024450975.2:c.252C>T, XM_024450975.1:c.252C>T, NM_001142624.2:c.252C>T, NM_001256276.2:c.81C>T, NM_001256276.1:c.81C>T, XM_024450976.2:c.252C>T, XM_024450976.1:c.252C>T, XM_024450984.2:c.81C>T, XM_024450984.1:c.81C>T, NM_001142625.2:c.252C>T, NR_024574.1:n.683C>T, NR_024578.1:n.683C>T, XM_047436878.1:c.81C>T, NR_024575.1:n.352C>T, XM_047436877.1:c.81C>T, XM_047436881.1:c.81C>T, NR_024579.1:n.352C>T, NM_001136045.1:c.81C>T, XM_047436882.1:c.81C>T, XM_047436884.1:c.81C>T, NM_001144943.1:c.252C>T, XM_047436886.1:c.81C>T, XM_047436879.1:c.81C>T, XM_047436876.1:c.252C>T, XM_047436883.1:c.81C>T, XM_047436885.1:c.81C>T, NP_001243210.1:p.Arg175Trp

                            14.

                            rs1455896780 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:28715877 (GRCh38)
                              17:27042895 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:28715876:C:T
                              Gene:
                              RAB34 (Varview)
                              Functional Consequence:
                              synonymous_variant,5_prime_UTR_variant,3_prime_UTR_variant,coding_sequence_variant
                              HGVS:
                              NC_000017.11:g.28715877C>T, NC_000017.10:g.27042895C>T, NM_031934.6:c.237G>A, NM_031934.5:c.237G>A, NM_001256281.3:c.*85G>A, NM_001256281.2:c.*85G>A, NM_001144942.2:c.237G>A, NM_001144942.1:c.237G>A, XM_024450990.2:c.-34G>A, XM_024450990.1:c.-34G>A, NM_001256277.2:c.237G>A, NM_001256277.1:c.237G>A, XM_024450973.2:c.411G>A, XM_024450973.1:c.411G>A, XM_024450975.2:c.411G>A, XM_024450975.1:c.411G>A, NM_001142624.2:c.408G>A, NM_001256276.2:c.171G>A, NM_001256276.1:c.171G>A, XM_024450976.2:c.342G>A, XM_024450976.1:c.342G>A, XM_024450984.2:c.237G>A, XM_024450984.1:c.237G>A, NM_001142625.2:c.411G>A, NR_024574.1:n.839G>A, NR_024578.1:n.839G>A, XM_047436878.1:c.240G>A, NR_024575.1:n.508G>A, XM_047436877.1:c.240G>A, XM_047436881.1:c.237G>A, NR_024579.1:n.442G>A, NM_001136045.1:c.237G>A, XM_047436882.1:c.240G>A, XM_047436884.1:c.237G>A, NM_001144943.1:c.408G>A, XM_047436886.1:c.171G>A, XM_047436879.1:c.240G>A, XM_047436876.1:c.342G>A, XM_047436883.1:c.240G>A, XM_047436885.1:c.237G>A, XM_047436880.1:c.240G>A, NM_001256278.1:c.237G>A

                              15.

                              rs1454896185 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:28716920 (GRCh38)
                                17:27043938 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:28716919:G:A
                                Gene:
                                RAB34 (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000017.11:g.28716920G>A, NC_000017.10:g.27043938G>A, NM_031934.6:c.129C>T, NM_031934.5:c.129C>T, NM_001256281.3:c.571C>T, NM_001256281.2:c.571C>T, NM_001256281.1:c.571C>T, NM_001144942.2:c.129C>T, NM_001144942.1:c.129C>T, NM_001256277.2:c.129C>T, NM_001256277.1:c.129C>T, XM_024450973.2:c.300C>T, XM_024450973.1:c.300C>T, XM_024450975.2:c.300C>T, XM_024450975.1:c.300C>T, NM_001142624.2:c.300C>T, NM_001256276.2:c.129C>T, NM_001256276.1:c.129C>T, XM_024450976.2:c.300C>T, XM_024450976.1:c.300C>T, XM_024450984.2:c.129C>T, XM_024450984.1:c.129C>T, NM_001142625.2:c.300C>T, NR_024574.1:n.731C>T, NR_024578.1:n.731C>T, XM_047436878.1:c.129C>T, NR_024575.1:n.400C>T, XM_047436877.1:c.129C>T, XM_047436881.1:c.129C>T, NR_024579.1:n.400C>T, NM_001136045.1:c.129C>T, XM_047436882.1:c.129C>T, XM_047436884.1:c.129C>T, NM_001144943.1:c.300C>T, XM_047436886.1:c.129C>T, XM_047436879.1:c.129C>T, XM_047436876.1:c.300C>T, XM_047436883.1:c.129C>T, XM_047436885.1:c.129C>T, NP_001243210.1:p.Pro191Ser

                                16.

                                rs1452536252 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:28715276 (GRCh38)
                                  17:27042294 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:28715275:C:A
                                  Gene:
                                  RAB34 (Varview)
                                  Functional Consequence:
                                  missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.28715276C>A, NC_000017.10:g.27042294C>A, NM_031934.6:c.432G>T, NM_031934.5:c.432G>T, NM_001256281.3:c.*280G>T, NM_001256281.2:c.*280G>T, NM_001144942.2:c.432G>T, NM_001144942.1:c.432G>T, XM_024450990.2:c.162G>T, XM_024450990.1:c.162G>T, NM_001256277.2:c.432G>T, NM_001256277.1:c.432G>T, XM_024450973.2:c.606G>T, XM_024450973.1:c.606G>T, XM_024450975.2:c.606G>T, XM_024450975.1:c.606G>T, NM_001142624.2:c.603G>T, NM_001256276.2:c.366G>T, NM_001256276.1:c.366G>T, XM_024450976.2:c.537G>T, XM_024450976.1:c.537G>T, XM_024450984.2:c.432G>T, XM_024450984.1:c.432G>T, NM_001142625.2:c.606G>T, NR_024574.1:n.1034G>T, NR_024578.1:n.1034G>T, XM_047436878.1:c.435G>T, NR_024575.1:n.703G>T, XM_047436877.1:c.435G>T, XM_047436881.1:c.432G>T, NR_024579.1:n.637G>T, NM_001136045.1:c.432G>T, XM_047436882.1:c.435G>T, XM_047436884.1:c.432G>T, NM_001144943.1:c.603G>T, XM_047436886.1:c.366G>T, XM_047436879.1:c.435G>T, XM_047436876.1:c.537G>T, XM_047436883.1:c.435G>T, XM_047436885.1:c.432G>T, XM_047436880.1:c.435G>T, NM_001256278.1:c.432G>T, NP_114140.4:p.Lys144Asn, NP_001138414.1:p.Lys144Asn, XP_024306758.1:p.Lys54Asn, NP_001243206.1:p.Lys144Asn, XP_024306741.1:p.Lys202Asn, XP_024306743.1:p.Lys202Asn, NP_001136096.2:p.Lys201Asn, NP_001243205.1:p.Lys122Asn, XP_024306744.1:p.Lys179Asn, XP_024306752.1:p.Lys144Asn, NP_001136097.2:p.Lys202Asn, XP_047292834.1:p.Lys145Asn, XP_047292833.1:p.Lys145Asn, XP_047292837.1:p.Lys144Asn, XP_047292838.1:p.Lys145Asn, XP_047292840.1:p.Lys144Asn, NP_001138415.1:p.Lys201Asn, XP_047292842.1:p.Lys122Asn, XP_047292835.1:p.Lys145Asn, XP_047292832.1:p.Lys179Asn, XP_047292839.1:p.Lys145Asn, XP_047292841.1:p.Lys144Asn, XP_047292836.1:p.Lys145Asn, NP_001243207.1:p.Lys144Asn

                                  17.

                                  rs1452025586 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:28714800 (GRCh38)
                                    17:27041818 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:28714799:A:G
                                    Gene:
                                    RAB34 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.28714800A>G, NC_000017.10:g.27041818A>G, NM_031934.6:c.705T>C, NM_031934.5:c.705T>C, NM_001256281.3:c.*553T>C, NM_001256281.2:c.*553T>C, NM_001144942.2:c.681T>C, NM_001144942.1:c.681T>C, XM_024450990.2:c.435T>C, XM_024450990.1:c.435T>C, NM_001256277.2:c.705T>C, NM_001256277.1:c.705T>C, XM_024450973.2:c.879T>C, XM_024450973.1:c.879T>C, XM_024450975.2:c.855T>C, XM_024450975.1:c.855T>C, NM_001142624.2:c.852T>C, NM_001256276.2:c.639T>C, NM_001256276.1:c.639T>C, XM_024450976.2:c.810T>C, XM_024450976.1:c.810T>C, XM_024450984.2:c.705T>C, XM_024450984.1:c.705T>C, NR_024574.1:n.1307T>C, NR_024578.1:n.1283T>C, XM_047436878.1:c.708T>C, NR_024575.1:n.976T>C, XM_047436877.1:c.708T>C, XM_047436881.1:c.705T>C, NR_024579.1:n.910T>C, NM_001136045.1:c.705T>C, XM_047436882.1:c.684T>C, XM_047436884.1:c.681T>C, NM_001144943.1:c.876T>C, XM_047436886.1:c.639T>C, XM_047436879.1:c.708T>C, XM_047436876.1:c.786T>C, XM_047436883.1:c.684T>C, XM_047436885.1:c.681T>C, XM_047436880.1:c.708T>C, NM_001256278.1:c.705T>C

                                    18.

                                    rs1450713610 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:28715273 (GRCh38)
                                      17:27042291 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:28715272:C:T
                                      Gene:
                                      RAB34 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000324/6 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000043/6 (GnomAD)
                                      T=0.001339/6 (Estonian)
                                      HGVS:
                                      NC_000017.11:g.28715273C>T, NC_000017.10:g.27042291C>T, NM_031934.6:c.435G>A, NM_031934.5:c.435G>A, NM_001256281.3:c.*283G>A, NM_001256281.2:c.*283G>A, NM_001144942.2:c.435G>A, NM_001144942.1:c.435G>A, XM_024450990.2:c.165G>A, XM_024450990.1:c.165G>A, NM_001256277.2:c.435G>A, NM_001256277.1:c.435G>A, XM_024450973.2:c.609G>A, XM_024450973.1:c.609G>A, XM_024450975.2:c.609G>A, XM_024450975.1:c.609G>A, NM_001142624.2:c.606G>A, NM_001256276.2:c.369G>A, NM_001256276.1:c.369G>A, XM_024450976.2:c.540G>A, XM_024450976.1:c.540G>A, XM_024450984.2:c.435G>A, XM_024450984.1:c.435G>A, NM_001142625.2:c.609G>A, NR_024574.1:n.1037G>A, NR_024578.1:n.1037G>A, XM_047436878.1:c.438G>A, NR_024575.1:n.706G>A, XM_047436877.1:c.438G>A, XM_047436881.1:c.435G>A, NR_024579.1:n.640G>A, NM_001136045.1:c.435G>A, XM_047436882.1:c.438G>A, XM_047436884.1:c.435G>A, NM_001144943.1:c.606G>A, XM_047436886.1:c.369G>A, XM_047436879.1:c.438G>A, XM_047436876.1:c.540G>A, XM_047436883.1:c.438G>A, XM_047436885.1:c.435G>A, XM_047436880.1:c.438G>A, NM_001256278.1:c.435G>A

                                      19.

                                      rs1442152706 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:28717287 (GRCh38)
                                        17:27044305 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:28717286:G:A
                                        Gene:
                                        RAB34 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                        HGVS:
                                        NC_000017.11:g.28717287G>A, NC_000017.10:g.27044305G>A, NM_031934.6:c.-21C>T, NM_031934.5:c.-21C>T, NM_001256281.3:c.422C>T, NM_001256281.2:c.422C>T, NM_001256281.1:c.422C>T, NM_001144942.2:c.-21C>T, NM_001144942.1:c.-21C>T, XM_024450990.2:c.-199C>T, XM_024450990.1:c.-199C>T, NM_001256277.2:c.-21C>T, NM_001256277.1:c.-21C>T, XM_024450973.2:c.151C>T, XM_024450973.1:c.151C>T, XM_024450975.2:c.151C>T, XM_024450975.1:c.151C>T, NM_001142624.2:c.151C>T, NM_001256276.2:c.-21C>T, NM_001256276.1:c.-21C>T, XM_024450976.2:c.151C>T, XM_024450976.1:c.151C>T, XM_024450984.2:c.-21C>T, XM_024450984.1:c.-21C>T, NM_001142625.2:c.151C>T, NR_024574.1:n.582C>T, NR_024578.1:n.582C>T, XM_047436878.1:c.-21C>T, NR_024575.1:n.251C>T, XM_047436877.1:c.-21C>T, XM_047436881.1:c.-21C>T, NR_024579.1:n.251C>T, NM_001136045.1:c.-21C>T, XM_047436882.1:c.-21C>T, XM_047436884.1:c.-21C>T, NM_001144943.1:c.151C>T, XM_047436886.1:c.-21C>T, XM_047436879.1:c.-21C>T, XM_047436876.1:c.151C>T, XM_047436883.1:c.-21C>T, XM_047436885.1:c.-21C>T, NP_001243210.1:p.Ala141Val, XP_024306741.1:p.Pro51Ser, XP_024306743.1:p.Pro51Ser, NP_001136096.2:p.Pro51Ser, XP_024306744.1:p.Pro51Ser, NP_001136097.2:p.Pro51Ser, NP_001138415.1:p.Pro51Ser, XP_047292832.1:p.Pro51Ser

                                        20.

                                        rs1437360910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:28718150 (GRCh38)
                                          17:27045168 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:28718149:G:A
                                          Gene:
                                          RPL23A (Varview), RAB34 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
                                          HGVS:

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