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Items: 1 to 20 of 363

1.

rs1488440731 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:49104473 (GRCh38)
    12:49498256 (GRCh37)
    Canonical SPDI:
    NC_000012.12:49104472:G:A
    Gene:
    LMBR1L (Varview)
    Functional Consequence:
    5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.49104473G>A, NC_000012.11:g.49498256G>A, NM_018113.4:c.410C>T, NM_018113.3:c.410C>T, NM_018113.2:c.410C>T, XR_245944.4:n.702C>T, XR_245944.3:n.744C>T, XR_245944.2:n.755C>T, XR_245944.1:n.755C>T, NM_001300750.2:c.395C>T, NM_001300750.1:c.395C>T, NM_001352161.2:c.410C>T, NM_001352161.1:c.410C>T, NM_001352163.2:c.29C>T, NM_001352163.1:c.29C>T, NM_001352166.2:c.29C>T, NM_001352166.1:c.29C>T, NM_001300751.2:c.410C>T, NM_001300751.1:c.410C>T, NM_001352168.2:c.-150C>T, NM_001352168.1:c.-150C>T, NM_001352167.2:c.-150C>T, NM_001352167.1:c.-150C>T, NM_001352162.2:c.236C>T, NM_001352162.1:c.236C>T, NM_001352165.2:c.29C>T, NM_001352165.1:c.29C>T, XM_024449053.2:c.410C>T, XM_024449053.1:c.410C>T, NM_001352164.2:c.29C>T, NM_001352164.1:c.29C>T, XM_047429139.1:c.395C>T, XM_047429143.1:c.-784C>T, XM_047429140.1:c.410C>T, XM_047429142.1:c.29C>T, XM_047429141.1:c.410C>T, NP_060583.2:p.Ser137Phe, NP_001287679.1:p.Ser132Phe, NP_001339090.1:p.Ser137Phe, NP_001339092.1:p.Ser10Phe, NP_001339095.1:p.Ser10Phe, NP_001287680.1:p.Ser137Phe, NP_001339091.1:p.Ser79Phe, NP_001339094.1:p.Ser10Phe, XP_024304821.1:p.Ser137Phe, NP_001339093.1:p.Ser10Phe, XP_047285095.1:p.Ser132Phe, XP_047285096.1:p.Ser137Phe, XP_047285098.1:p.Ser10Phe, XP_047285097.1:p.Ser137Phe

    2.

    rs1486073336 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      12:49101540 (GRCh38)
      12:49495323 (GRCh37)
      Canonical SPDI:
      NC_000012.12:49101537:CACA:CA
      Gene:
      LMBR1L (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACA=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      -=0.000008/2 (GnomAD_exomes)
      -=0.000312/2 (1000Genomes)
      HGVS:
      NC_000012.12:g.49101538CA[1], NC_000012.11:g.49495321CA[1], NM_018113.4:c.941_942del, NM_018113.3:c.941_942del, NM_018113.2:c.941_942del, XR_245944.4:n.1231TG[1], XR_245944.3:n.1273TG[1], XR_245944.2:n.1284TG[1], XR_245944.1:n.1284TG[1], NM_001300750.2:c.926_927del, NM_001300750.1:c.926_927del, NM_001352161.2:c.941_942del, NM_001352161.1:c.941_942del, NM_001352163.2:c.560_561del, NM_001352163.1:c.560_561del, NM_001352166.2:c.560_561del, NM_001352166.1:c.560_561del, NM_001300751.2:c.941_942del, NM_001300751.1:c.941_942del, NM_001352168.2:c.317_318del, NM_001352168.1:c.317_318del, NM_001352167.2:c.317_318del, NM_001352167.1:c.317_318del, NM_001352162.2:c.767_768del, NM_001352162.1:c.767_768del, NM_001352165.2:c.560_561del, NM_001352165.1:c.560_561del, XM_024449053.2:c.941_942del, XM_024449053.1:c.941_942del, NM_001352164.2:c.560_561del, NM_001352164.1:c.560_561del, XM_047429139.1:c.926_927del, XM_047429143.1:c.317_318del, XM_047429140.1:c.941_942del, XM_047429142.1:c.560_561del, XM_047429141.1:c.941_942del, NP_060583.2:p.Val314fs, NP_001287679.1:p.Val309fs, NP_001339090.1:p.Val314fs, NP_001339092.1:p.Val187fs, NP_001339095.1:p.Val187fs, NP_001287680.1:p.Val314fs, NP_001339097.1:p.Val106fs, NP_001339096.1:p.Val106fs, NP_001339091.1:p.Val256fs, NP_001339094.1:p.Val187fs, XP_024304821.1:p.Val314fs, NP_001339093.1:p.Val187fs, XP_047285095.1:p.Val309fs, XP_047285099.1:p.Val106fs, XP_047285096.1:p.Val314fs, XP_047285098.1:p.Val187fs, XP_047285097.1:p.Val314fs

      3.

      rs1484995134 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        12:49102148 (GRCh38)
        12:49495931 (GRCh37)
        Canonical SPDI:
        NC_000012.12:49102147:A:
        Gene:
        LMBR1L (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        NC_000012.12:g.49102148del, NC_000012.11:g.49495931del, NM_018113.4:c.902del, NM_018113.3:c.902del, NM_018113.2:c.902del, XR_245944.4:n.1194del, XR_245944.3:n.1236del, XR_245944.2:n.1247del, XR_245944.1:n.1247del, NM_001300750.2:c.887del, NM_001300750.1:c.887del, NM_001352161.2:c.902del, NM_001352161.1:c.902del, NM_001352163.2:c.521del, NM_001352163.1:c.521del, NM_001352166.2:c.521del, NM_001352166.1:c.521del, NM_001300751.2:c.902del, NM_001300751.1:c.902del, NM_001352168.2:c.278del, NM_001352168.1:c.278del, NM_001352167.2:c.278del, NM_001352167.1:c.278del, NM_001352162.2:c.728del, NM_001352162.1:c.728del, NM_001352165.2:c.521del, NM_001352165.1:c.521del, XM_024449053.2:c.902del, XM_024449053.1:c.902del, NM_001352164.2:c.521del, NM_001352164.1:c.521del, XM_047429139.1:c.887del, XM_047429143.1:c.278del, XM_047429140.1:c.902del, XM_047429142.1:c.521del, XM_047429141.1:c.902del, NP_060583.2:p.Leu301fs, NP_001287679.1:p.Leu296fs, NP_001339090.1:p.Leu301fs, NP_001339092.1:p.Leu174fs, NP_001339095.1:p.Leu174fs, NP_001287680.1:p.Leu301fs, NP_001339097.1:p.Leu93fs, NP_001339096.1:p.Leu93fs, NP_001339091.1:p.Leu243fs, NP_001339094.1:p.Leu174fs, XP_024304821.1:p.Leu301fs, NP_001339093.1:p.Leu174fs, XP_047285095.1:p.Leu296fs, XP_047285099.1:p.Leu93fs, XP_047285096.1:p.Leu301fs, XP_047285098.1:p.Leu174fs, XP_047285097.1:p.Leu301fs

        4.

        rs1481904577 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:49103757 (GRCh38)
          12:49497540 (GRCh37)
          Canonical SPDI:
          NC_000012.12:49103756:C:T
          Gene:
          LMBR1L (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
          HGVS:
          NC_000012.12:g.49103757C>T, NC_000012.11:g.49497540C>T, NM_018113.4:c.492G>A, NM_018113.3:c.492G>A, NM_018113.2:c.492G>A, XR_245944.4:n.784G>A, XR_245944.3:n.826G>A, XR_245944.2:n.837G>A, XR_245944.1:n.837G>A, NM_001300750.2:c.477G>A, NM_001300750.1:c.477G>A, NM_001352161.2:c.492G>A, NM_001352161.1:c.492G>A, NM_001352163.2:c.111G>A, NM_001352163.1:c.111G>A, NM_001352166.2:c.111G>A, NM_001352166.1:c.111G>A, NM_001300751.2:c.492G>A, NM_001300751.1:c.492G>A, NM_001352168.2:c.-68G>A, NM_001352168.1:c.-68G>A, NM_001352167.2:c.-68G>A, NM_001352167.1:c.-68G>A, NM_001352162.2:c.318G>A, NM_001352162.1:c.318G>A, NM_001352165.2:c.111G>A, NM_001352165.1:c.111G>A, XM_024449053.2:c.492G>A, XM_024449053.1:c.492G>A, NM_001352164.2:c.111G>A, NM_001352164.1:c.111G>A, XM_047429139.1:c.477G>A, XM_047429143.1:c.-68G>A, XM_047429140.1:c.492G>A, XM_047429142.1:c.111G>A, XM_047429141.1:c.492G>A

          5.

          rs1481221172 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            12:49102368 (GRCh38)
            12:49496151 (GRCh37)
            Canonical SPDI:
            NC_000012.12:49102367:A:T
            Gene:
            LMBR1L (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.49102368A>T, NC_000012.11:g.49496151A>T, NM_018113.4:c.778T>A, NM_018113.3:c.778T>A, NM_018113.2:c.778T>A, XR_245944.4:n.1070T>A, XR_245944.3:n.1112T>A, XR_245944.2:n.1123T>A, XR_245944.1:n.1123T>A, NM_001300750.2:c.763T>A, NM_001300750.1:c.763T>A, NM_001352161.2:c.778T>A, NM_001352161.1:c.778T>A, NM_001352163.2:c.397T>A, NM_001352163.1:c.397T>A, NM_001352166.2:c.397T>A, NM_001352166.1:c.397T>A, NM_001300751.2:c.778T>A, NM_001300751.1:c.778T>A, NM_001352168.2:c.154T>A, NM_001352168.1:c.154T>A, NM_001352167.2:c.154T>A, NM_001352167.1:c.154T>A, NM_001352162.2:c.604T>A, NM_001352162.1:c.604T>A, NM_001352165.2:c.397T>A, NM_001352165.1:c.397T>A, XM_024449053.2:c.778T>A, XM_024449053.1:c.778T>A, NM_001352164.2:c.397T>A, NM_001352164.1:c.397T>A, XM_047429139.1:c.763T>A, XM_047429143.1:c.154T>A, XM_047429140.1:c.778T>A, XM_047429142.1:c.397T>A, XM_047429141.1:c.778T>A, NP_060583.2:p.Ser260Thr, NP_001287679.1:p.Ser255Thr, NP_001339090.1:p.Ser260Thr, NP_001339092.1:p.Ser133Thr, NP_001339095.1:p.Ser133Thr, NP_001287680.1:p.Ser260Thr, NP_001339097.1:p.Ser52Thr, NP_001339096.1:p.Ser52Thr, NP_001339091.1:p.Ser202Thr, NP_001339094.1:p.Ser133Thr, XP_024304821.1:p.Ser260Thr, NP_001339093.1:p.Ser133Thr, XP_047285095.1:p.Ser255Thr, XP_047285099.1:p.Ser52Thr, XP_047285096.1:p.Ser260Thr, XP_047285098.1:p.Ser133Thr, XP_047285097.1:p.Ser260Thr

            6.

            rs1479927497 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:49102327 (GRCh38)
              12:49496110 (GRCh37)
              Canonical SPDI:
              NC_000012.12:49102326:C:T
              Gene:
              LMBR1L (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.49102327C>T, NC_000012.11:g.49496110C>T, NM_018113.4:c.819G>A, NM_018113.3:c.819G>A, NM_018113.2:c.819G>A, XR_245944.4:n.1111G>A, XR_245944.3:n.1153G>A, XR_245944.2:n.1164G>A, XR_245944.1:n.1164G>A, NM_001300750.2:c.804G>A, NM_001300750.1:c.804G>A, NM_001352161.2:c.819G>A, NM_001352161.1:c.819G>A, NM_001352163.2:c.438G>A, NM_001352163.1:c.438G>A, NM_001352166.2:c.438G>A, NM_001352166.1:c.438G>A, NM_001300751.2:c.819G>A, NM_001300751.1:c.819G>A, NM_001352168.2:c.195G>A, NM_001352168.1:c.195G>A, NM_001352167.2:c.195G>A, NM_001352167.1:c.195G>A, NM_001352162.2:c.645G>A, NM_001352162.1:c.645G>A, NM_001352165.2:c.438G>A, NM_001352165.1:c.438G>A, XM_024449053.2:c.819G>A, XM_024449053.1:c.819G>A, NM_001352164.2:c.438G>A, NM_001352164.1:c.438G>A, XM_047429139.1:c.804G>A, XM_047429143.1:c.195G>A, XM_047429140.1:c.819G>A, XM_047429142.1:c.438G>A, XM_047429141.1:c.819G>A

              7.

              rs1479112052 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:49101236 (GRCh38)
                12:49495019 (GRCh37)
                Canonical SPDI:
                NC_000012.12:49101235:T:C
                Gene:
                LMBR1L (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1478420255 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  12:49097950 (GRCh38)
                  12:49491733 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:49097949:C:A
                  Gene:
                  LMBR1L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.49097950C>A, NC_000012.11:g.49491733C>A, NG_008973.2:g.1870G>T, NM_018113.4:c.1396G>T, NM_018113.3:c.1396G>T, NM_018113.2:c.1396G>T, NM_001300750.2:c.1381G>T, NM_001300750.1:c.1381G>T, NM_001352161.2:c.1417G>T, NM_001352161.1:c.1417G>T, NM_001352163.2:c.1036G>T, NM_001352163.1:c.1036G>T, NM_001352166.2:c.1015G>T, NM_001352166.1:c.1015G>T, NM_001300751.2:c.1336G>T, NM_001300751.1:c.1336G>T, NM_001352168.2:c.772G>T, NM_001352168.1:c.772G>T, NM_001352167.2:c.772G>T, NM_001352167.1:c.772G>T, NM_001352162.2:c.1222G>T, NM_001352162.1:c.1222G>T, NM_001352165.2:c.1015G>T, NM_001352165.1:c.1015G>T, XM_047429139.1:c.1381G>T, XM_047429143.1:c.772G>T, XM_047429142.1:c.1015G>T, NP_060583.2:p.Ala466Ser, NP_001287679.1:p.Ala461Ser, NP_001339090.1:p.Ala473Ser, NP_001339092.1:p.Ala346Ser, NP_001339095.1:p.Ala339Ser, NP_001287680.1:p.Ala446Ser, NP_001339097.1:p.Ala258Ser, NP_001339096.1:p.Ala258Ser, NP_001339091.1:p.Ala408Ser, NP_001339094.1:p.Ala339Ser, XP_047285095.1:p.Ala461Ser, XP_047285099.1:p.Ala258Ser, XP_047285098.1:p.Ala339Ser

                  9.

                  rs1476480652 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:49103738 (GRCh38)
                    12:49497521 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:49103737:C:T
                    Gene:
                    LMBR1L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.49103738C>T, NC_000012.11:g.49497521C>T, NM_018113.4:c.511G>A, NM_018113.3:c.511G>A, NM_018113.2:c.511G>A, XR_245944.4:n.803G>A, XR_245944.3:n.845G>A, XR_245944.2:n.856G>A, XR_245944.1:n.856G>A, NM_001300750.2:c.496G>A, NM_001300750.1:c.496G>A, NM_001352161.2:c.511G>A, NM_001352161.1:c.511G>A, NM_001352163.2:c.130G>A, NM_001352163.1:c.130G>A, NM_001352166.2:c.130G>A, NM_001352166.1:c.130G>A, NM_001300751.2:c.511G>A, NM_001300751.1:c.511G>A, NM_001352168.2:c.-49G>A, NM_001352168.1:c.-49G>A, NM_001352167.2:c.-49G>A, NM_001352167.1:c.-49G>A, NM_001352162.2:c.337G>A, NM_001352162.1:c.337G>A, NM_001352165.2:c.130G>A, NM_001352165.1:c.130G>A, XM_024449053.2:c.511G>A, XM_024449053.1:c.511G>A, NM_001352164.2:c.130G>A, NM_001352164.1:c.130G>A, XM_047429139.1:c.496G>A, XM_047429143.1:c.-49G>A, XM_047429140.1:c.511G>A, XM_047429142.1:c.130G>A, XM_047429141.1:c.511G>A, NP_060583.2:p.Val171Met, NP_001287679.1:p.Val166Met, NP_001339090.1:p.Val171Met, NP_001339092.1:p.Val44Met, NP_001339095.1:p.Val44Met, NP_001287680.1:p.Val171Met, NP_001339091.1:p.Val113Met, NP_001339094.1:p.Val44Met, XP_024304821.1:p.Val171Met, NP_001339093.1:p.Val44Met, XP_047285095.1:p.Val166Met, XP_047285096.1:p.Val171Met, XP_047285098.1:p.Val44Met, XP_047285097.1:p.Val171Met

                    10.

                    rs1473865671 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:49100431 (GRCh38)
                      12:49494214 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:49100430:G:A
                      Gene:
                      LMBR1L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000012.12:g.49100431G>A, NC_000012.11:g.49494214G>A, NM_018113.4:c.1197C>T, NM_018113.3:c.1197C>T, NM_018113.2:c.1197C>T, XR_245944.4:n.1436C>T, XR_245944.3:n.1478C>T, XR_245944.2:n.1489C>T, XR_245944.1:n.1489C>T, NM_001300750.2:c.1182C>T, NM_001300750.1:c.1182C>T, NM_001352161.2:c.1218C>T, NM_001352161.1:c.1218C>T, NM_001352163.2:c.837C>T, NM_001352163.1:c.837C>T, NM_001352166.2:c.816C>T, NM_001352166.1:c.816C>T, NM_001300751.2:c.1137C>T, NM_001300751.1:c.1137C>T, NM_001352168.2:c.573C>T, NM_001352168.1:c.573C>T, NM_001352167.2:c.573C>T, NM_001352167.1:c.573C>T, NM_001352162.2:c.1023C>T, NM_001352162.1:c.1023C>T, NM_001352165.2:c.816C>T, NM_001352165.1:c.816C>T, XM_024449053.2:c.1137C>T, XM_024449053.1:c.1137C>T, NM_001352164.2:c.756C>T, NM_001352164.1:c.756C>T, XM_047429139.1:c.1182C>T, XM_047429143.1:c.573C>T, XM_047429140.1:c.1197C>T, XM_047429142.1:c.816C>T

                      11.

                      rs1470356962 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:49097680 (GRCh38)
                        12:49491463 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:49097679:G:A
                        Gene:
                        LMBR1L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.49097680G>A, NC_000012.11:g.49491463G>A, NG_008973.2:g.2140C>T, NM_018113.4:c.1462C>T, NM_018113.3:c.1462C>T, NM_018113.2:c.1462C>T, NM_001300750.2:c.1447C>T, NM_001300750.1:c.1447C>T, NM_001352161.2:c.1483C>T, NM_001352161.1:c.1483C>T, NM_001352163.2:c.1102C>T, NM_001352163.1:c.1102C>T, NM_001352166.2:c.1081C>T, NM_001352166.1:c.1081C>T, NM_001300751.2:c.1402C>T, NM_001300751.1:c.1402C>T, NM_001352168.2:c.838C>T, NM_001352168.1:c.838C>T, NM_001352167.2:c.838C>T, NM_001352167.1:c.838C>T, NM_001352162.2:c.1288C>T, NM_001352162.1:c.1288C>T, NM_001352165.2:c.1081C>T, NM_001352165.1:c.1081C>T, XM_024449053.2:c.1240C>T, XM_024449053.1:c.1240C>T, NM_001352164.2:c.859C>T, NM_001352164.1:c.859C>T, XM_047429139.1:c.1447C>T, XM_047429143.1:c.838C>T, XM_047429140.1:c.1300C>T, XM_047429142.1:c.1081C>T, NP_060583.2:p.His488Tyr, NP_001287679.1:p.His483Tyr, NP_001339090.1:p.His495Tyr, NP_001339092.1:p.His368Tyr, NP_001339095.1:p.His361Tyr, NP_001287680.1:p.His468Tyr, NP_001339097.1:p.His280Tyr, NP_001339096.1:p.His280Tyr, NP_001339091.1:p.His430Tyr, NP_001339094.1:p.His361Tyr, XP_024304821.1:p.His414Tyr, NP_001339093.1:p.His287Tyr, XP_047285095.1:p.His483Tyr, XP_047285099.1:p.His280Tyr, XP_047285096.1:p.His434Tyr, XP_047285098.1:p.His361Tyr

                        12.

                        rs1467599281 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:49103746 (GRCh38)
                          12:49497529 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:49103745:A:G
                          Gene:
                          LMBR1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.49103746A>G, NC_000012.11:g.49497529A>G, NM_018113.4:c.503T>C, NM_018113.3:c.503T>C, NM_018113.2:c.503T>C, XR_245944.4:n.795T>C, XR_245944.3:n.837T>C, XR_245944.2:n.848T>C, XR_245944.1:n.848T>C, NM_001300750.2:c.488T>C, NM_001300750.1:c.488T>C, NM_001352161.2:c.503T>C, NM_001352161.1:c.503T>C, NM_001352163.2:c.122T>C, NM_001352163.1:c.122T>C, NM_001352166.2:c.122T>C, NM_001352166.1:c.122T>C, NM_001300751.2:c.503T>C, NM_001300751.1:c.503T>C, NM_001352168.2:c.-57T>C, NM_001352168.1:c.-57T>C, NM_001352167.2:c.-57T>C, NM_001352167.1:c.-57T>C, NM_001352162.2:c.329T>C, NM_001352162.1:c.329T>C, NM_001352165.2:c.122T>C, NM_001352165.1:c.122T>C, XM_024449053.2:c.503T>C, XM_024449053.1:c.503T>C, NM_001352164.2:c.122T>C, NM_001352164.1:c.122T>C, XM_047429139.1:c.488T>C, XM_047429143.1:c.-57T>C, XM_047429140.1:c.503T>C, XM_047429142.1:c.122T>C, XM_047429141.1:c.503T>C, NP_060583.2:p.Met168Thr, NP_001287679.1:p.Met163Thr, NP_001339090.1:p.Met168Thr, NP_001339092.1:p.Met41Thr, NP_001339095.1:p.Met41Thr, NP_001287680.1:p.Met168Thr, NP_001339091.1:p.Met110Thr, NP_001339094.1:p.Met41Thr, XP_024304821.1:p.Met168Thr, NP_001339093.1:p.Met41Thr, XP_047285095.1:p.Met163Thr, XP_047285096.1:p.Met168Thr, XP_047285098.1:p.Met41Thr, XP_047285097.1:p.Met168Thr

                          13.

                          rs1459984981 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:49101477 (GRCh38)
                            12:49495260 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:49101476:T:C
                            Gene:
                            LMBR1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.49101477T>C, NC_000012.11:g.49495260T>C, NM_018113.4:c.1003A>G, NM_018113.3:c.1003A>G, NM_018113.2:c.1003A>G, XR_245944.4:n.1295A>G, XR_245944.3:n.1337A>G, XR_245944.2:n.1348A>G, XR_245944.1:n.1348A>G, NM_001300750.2:c.988A>G, NM_001300750.1:c.988A>G, NM_001352161.2:c.1003A>G, NM_001352161.1:c.1003A>G, NM_001352163.2:c.622A>G, NM_001352163.1:c.622A>G, NM_001352166.2:c.622A>G, NM_001352166.1:c.622A>G, NM_001300751.2:c.1003A>G, NM_001300751.1:c.1003A>G, NM_001352168.2:c.379A>G, NM_001352168.1:c.379A>G, NM_001352167.2:c.379A>G, NM_001352167.1:c.379A>G, NM_001352162.2:c.829A>G, NM_001352162.1:c.829A>G, NM_001352165.2:c.622A>G, NM_001352165.1:c.622A>G, XM_024449053.2:c.1003A>G, XM_024449053.1:c.1003A>G, NM_001352164.2:c.622A>G, NM_001352164.1:c.622A>G, XM_047429139.1:c.988A>G, XM_047429143.1:c.379A>G, XM_047429140.1:c.1003A>G, XM_047429142.1:c.622A>G, XM_047429141.1:c.1003A>G, NP_060583.2:p.Met335Val, NP_001287679.1:p.Met330Val, NP_001339090.1:p.Met335Val, NP_001339092.1:p.Met208Val, NP_001339095.1:p.Met208Val, NP_001287680.1:p.Met335Val, NP_001339097.1:p.Met127Val, NP_001339096.1:p.Met127Val, NP_001339091.1:p.Met277Val, NP_001339094.1:p.Met208Val, XP_024304821.1:p.Met335Val, NP_001339093.1:p.Met208Val, XP_047285095.1:p.Met330Val, XP_047285099.1:p.Met127Val, XP_047285096.1:p.Met335Val, XP_047285098.1:p.Met208Val, XP_047285097.1:p.Met335Val

                            14.

                            rs1458435762 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:49101257 (GRCh38)
                              12:49495040 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:49101256:G:A
                              Gene:
                              LMBR1L (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000012.12:g.49101257G>A, NC_000012.11:g.49495040G>A, NM_018113.4:c.1075C>T, NM_018113.3:c.1075C>T, NM_018113.2:c.1075C>T, NM_001300750.2:c.1060C>T, NM_001300750.1:c.1060C>T, NM_001352161.2:c.1015C>T, NM_001352161.1:c.1015C>T, NM_001352163.2:c.634C>T, NM_001352163.1:c.634C>T, NM_001352166.2:c.694C>T, NM_001352166.1:c.694C>T, NM_001300751.2:c.1015C>T, NM_001300751.1:c.1015C>T, NM_001352168.2:c.451C>T, NM_001352168.1:c.451C>T, NM_001352167.2:c.451C>T, NM_001352167.1:c.451C>T, NM_001352162.2:c.901C>T, NM_001352162.1:c.901C>T, NM_001352165.2:c.694C>T, NM_001352165.1:c.694C>T, XM_024449053.2:c.1015C>T, XM_024449053.1:c.1015C>T, NM_001352164.2:c.634C>T, NM_001352164.1:c.634C>T, XM_047429139.1:c.1060C>T, XM_047429143.1:c.451C>T, XM_047429140.1:c.1075C>T, XM_047429142.1:c.694C>T, NP_060583.2:p.Leu359Phe, NP_001287679.1:p.Leu354Phe, NP_001339090.1:p.Leu339Phe, NP_001339092.1:p.Leu212Phe, NP_001339095.1:p.Leu232Phe, NP_001287680.1:p.Leu339Phe, NP_001339097.1:p.Leu151Phe, NP_001339096.1:p.Leu151Phe, NP_001339091.1:p.Leu301Phe, NP_001339094.1:p.Leu232Phe, XP_024304821.1:p.Leu339Phe, NP_001339093.1:p.Leu212Phe, XP_047285095.1:p.Leu354Phe, XP_047285099.1:p.Leu151Phe, XP_047285096.1:p.Leu359Phe, XP_047285098.1:p.Leu232Phe

                              15.

                              rs1457919822 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:49100608 (GRCh38)
                                12:49494391 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:49100607:G:A
                                Gene:
                                LMBR1L (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.49100608G>A, NC_000012.11:g.49494391G>A, NM_018113.4:c.1121C>T, NM_018113.3:c.1121C>T, NM_018113.2:c.1121C>T, XR_245944.4:n.1360C>T, XR_245944.3:n.1402C>T, XR_245944.2:n.1413C>T, XR_245944.1:n.1413C>T, NM_001300750.2:c.1106C>T, NM_001300750.1:c.1106C>T, NM_001352161.2:c.1142C>T, NM_001352161.1:c.1142C>T, NM_001352163.2:c.761C>T, NM_001352163.1:c.761C>T, NM_001352166.2:c.740C>T, NM_001352166.1:c.740C>T, NM_001300751.2:c.1061C>T, NM_001300751.1:c.1061C>T, NM_001352168.2:c.497C>T, NM_001352168.1:c.497C>T, NM_001352167.2:c.497C>T, NM_001352167.1:c.497C>T, NM_001352162.2:c.947C>T, NM_001352162.1:c.947C>T, NM_001352165.2:c.740C>T, NM_001352165.1:c.740C>T, XM_024449053.2:c.1061C>T, XM_024449053.1:c.1061C>T, NM_001352164.2:c.680C>T, NM_001352164.1:c.680C>T, XM_047429139.1:c.1106C>T, XM_047429143.1:c.497C>T, XM_047429140.1:c.1121C>T, XM_047429142.1:c.740C>T, NP_060583.2:p.Ser374Phe, NP_001287679.1:p.Ser369Phe, NP_001339090.1:p.Ser381Phe, NP_001339092.1:p.Ser254Phe, NP_001339095.1:p.Ser247Phe, NP_001287680.1:p.Ser354Phe, NP_001339097.1:p.Ser166Phe, NP_001339096.1:p.Ser166Phe, NP_001339091.1:p.Ser316Phe, NP_001339094.1:p.Ser247Phe, XP_024304821.1:p.Ser354Phe, NP_001339093.1:p.Ser227Phe, XP_047285095.1:p.Ser369Phe, XP_047285099.1:p.Ser166Phe, XP_047285096.1:p.Ser374Phe, XP_047285098.1:p.Ser247Phe

                                16.

                                rs1453891790 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:49101253 (GRCh38)
                                  12:49495036 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:49101252:A:G
                                  Gene:
                                  LMBR1L (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.49101253A>G, NC_000012.11:g.49495036A>G, NM_018113.4:c.1079T>C, NM_018113.3:c.1079T>C, NM_018113.2:c.1079T>C, NM_001300750.2:c.1064T>C, NM_001300750.1:c.1064T>C, NM_001352161.2:c.1019T>C, NM_001352161.1:c.1019T>C, NM_001352163.2:c.638T>C, NM_001352163.1:c.638T>C, NM_001352166.2:c.698T>C, NM_001352166.1:c.698T>C, NM_001300751.2:c.1019T>C, NM_001300751.1:c.1019T>C, NM_001352168.2:c.455T>C, NM_001352168.1:c.455T>C, NM_001352167.2:c.455T>C, NM_001352167.1:c.455T>C, NM_001352162.2:c.905T>C, NM_001352162.1:c.905T>C, NM_001352165.2:c.698T>C, NM_001352165.1:c.698T>C, XM_024449053.2:c.1019T>C, XM_024449053.1:c.1019T>C, NM_001352164.2:c.638T>C, NM_001352164.1:c.638T>C, XM_047429139.1:c.1064T>C, XM_047429143.1:c.455T>C, XM_047429140.1:c.1079T>C, XM_047429142.1:c.698T>C, NP_060583.2:p.Ile360Thr, NP_001287679.1:p.Ile355Thr, NP_001339090.1:p.Ile340Thr, NP_001339092.1:p.Ile213Thr, NP_001339095.1:p.Ile233Thr, NP_001287680.1:p.Ile340Thr, NP_001339097.1:p.Ile152Thr, NP_001339096.1:p.Ile152Thr, NP_001339091.1:p.Ile302Thr, NP_001339094.1:p.Ile233Thr, XP_024304821.1:p.Ile340Thr, NP_001339093.1:p.Ile213Thr, XP_047285095.1:p.Ile355Thr, XP_047285099.1:p.Ile152Thr, XP_047285096.1:p.Ile360Thr, XP_047285098.1:p.Ile233Thr

                                  17.

                                  rs1452090104 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:49102147 (GRCh38)
                                    12:49495930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:49102146:C:T
                                    Gene:
                                    LMBR1L (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.49102147C>T, NC_000012.11:g.49495930C>T, NM_018113.4:c.903G>A, NM_018113.3:c.903G>A, NM_018113.2:c.903G>A, XR_245944.4:n.1195G>A, XR_245944.3:n.1237G>A, XR_245944.2:n.1248G>A, XR_245944.1:n.1248G>A, NM_001300750.2:c.888G>A, NM_001300750.1:c.888G>A, NM_001352161.2:c.903G>A, NM_001352161.1:c.903G>A, NM_001352163.2:c.522G>A, NM_001352163.1:c.522G>A, NM_001352166.2:c.522G>A, NM_001352166.1:c.522G>A, NM_001300751.2:c.903G>A, NM_001300751.1:c.903G>A, NM_001352168.2:c.279G>A, NM_001352168.1:c.279G>A, NM_001352167.2:c.279G>A, NM_001352167.1:c.279G>A, NM_001352162.2:c.729G>A, NM_001352162.1:c.729G>A, NM_001352165.2:c.522G>A, NM_001352165.1:c.522G>A, XM_024449053.2:c.903G>A, XM_024449053.1:c.903G>A, NM_001352164.2:c.522G>A, NM_001352164.1:c.522G>A, XM_047429139.1:c.888G>A, XM_047429143.1:c.279G>A, XM_047429140.1:c.903G>A, XM_047429142.1:c.522G>A, XM_047429141.1:c.903G>A

                                    18.

                                    rs1451551917 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:49102345 (GRCh38)
                                      12:49496128 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:49102344:C:A
                                      Gene:
                                      LMBR1L (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.49102345C>A, NC_000012.11:g.49496128C>A, NM_018113.4:c.801G>T, NM_018113.3:c.801G>T, NM_018113.2:c.801G>T, XR_245944.4:n.1093G>T, XR_245944.3:n.1135G>T, XR_245944.2:n.1146G>T, XR_245944.1:n.1146G>T, NM_001300750.2:c.786G>T, NM_001300750.1:c.786G>T, NM_001352161.2:c.801G>T, NM_001352161.1:c.801G>T, NM_001352163.2:c.420G>T, NM_001352163.1:c.420G>T, NM_001352166.2:c.420G>T, NM_001352166.1:c.420G>T, NM_001300751.2:c.801G>T, NM_001300751.1:c.801G>T, NM_001352168.2:c.177G>T, NM_001352168.1:c.177G>T, NM_001352167.2:c.177G>T, NM_001352167.1:c.177G>T, NM_001352162.2:c.627G>T, NM_001352162.1:c.627G>T, NM_001352165.2:c.420G>T, NM_001352165.1:c.420G>T, XM_024449053.2:c.801G>T, XM_024449053.1:c.801G>T, NM_001352164.2:c.420G>T, NM_001352164.1:c.420G>T, XM_047429139.1:c.786G>T, XM_047429143.1:c.177G>T, XM_047429140.1:c.801G>T, XM_047429142.1:c.420G>T, XM_047429141.1:c.801G>T, NP_060583.2:p.Met267Ile, NP_001287679.1:p.Met262Ile, NP_001339090.1:p.Met267Ile, NP_001339092.1:p.Met140Ile, NP_001339095.1:p.Met140Ile, NP_001287680.1:p.Met267Ile, NP_001339097.1:p.Met59Ile, NP_001339096.1:p.Met59Ile, NP_001339091.1:p.Met209Ile, NP_001339094.1:p.Met140Ile, XP_024304821.1:p.Met267Ile, NP_001339093.1:p.Met140Ile, XP_047285095.1:p.Met262Ile, XP_047285099.1:p.Met59Ile, XP_047285096.1:p.Met267Ile, XP_047285098.1:p.Met140Ile, XP_047285097.1:p.Met267Ile

                                      19.

                                      rs1447951497 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:49102484 (GRCh38)
                                        12:49496267 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:49102483:C:T
                                        Gene:
                                        LMBR1L (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        HGVS:
                                        NC_000012.12:g.49102484C>T, NC_000012.11:g.49496267C>T, NM_018113.4:c.753G>A, NM_018113.3:c.753G>A, NM_018113.2:c.753G>A, XR_245944.4:n.1045G>A, XR_245944.3:n.1087G>A, XR_245944.2:n.1098G>A, XR_245944.1:n.1098G>A, NM_001300750.2:c.738G>A, NM_001300750.1:c.738G>A, NM_001352161.2:c.753G>A, NM_001352161.1:c.753G>A, NM_001352163.2:c.372G>A, NM_001352163.1:c.372G>A, NM_001352166.2:c.372G>A, NM_001352166.1:c.372G>A, NM_001300751.2:c.753G>A, NM_001300751.1:c.753G>A, NM_001352168.2:c.129G>A, NM_001352168.1:c.129G>A, NM_001352167.2:c.129G>A, NM_001352167.1:c.129G>A, NM_001352162.2:c.579G>A, NM_001352162.1:c.579G>A, NM_001352165.2:c.372G>A, NM_001352165.1:c.372G>A, XM_024449053.2:c.753G>A, XM_024449053.1:c.753G>A, NM_001352164.2:c.372G>A, NM_001352164.1:c.372G>A, XM_047429139.1:c.738G>A, XM_047429143.1:c.129G>A, XM_047429140.1:c.753G>A, XM_047429142.1:c.372G>A, XM_047429141.1:c.753G>A

                                        20.

                                        rs1447857566 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:49100580 (GRCh38)
                                          12:49494363 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:49100579:T:C
                                          Gene:
                                          LMBR1L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.49100580T>C, NC_000012.11:g.49494363T>C, NM_018113.4:c.1149A>G, NM_018113.3:c.1149A>G, NM_018113.2:c.1149A>G, XR_245944.4:n.1388A>G, XR_245944.3:n.1430A>G, XR_245944.2:n.1441A>G, XR_245944.1:n.1441A>G, NM_001300750.2:c.1134A>G, NM_001300750.1:c.1134A>G, NM_001352161.2:c.1170A>G, NM_001352161.1:c.1170A>G, NM_001352163.2:c.789A>G, NM_001352163.1:c.789A>G, NM_001352166.2:c.768A>G, NM_001352166.1:c.768A>G, NM_001300751.2:c.1089A>G, NM_001300751.1:c.1089A>G, NM_001352168.2:c.525A>G, NM_001352168.1:c.525A>G, NM_001352167.2:c.525A>G, NM_001352167.1:c.525A>G, NM_001352162.2:c.975A>G, NM_001352162.1:c.975A>G, NM_001352165.2:c.768A>G, NM_001352165.1:c.768A>G, XM_024449053.2:c.1089A>G, XM_024449053.1:c.1089A>G, NM_001352164.2:c.708A>G, NM_001352164.1:c.708A>G, XM_047429139.1:c.1134A>G, XM_047429143.1:c.525A>G, XM_047429140.1:c.1149A>G, XM_047429142.1:c.768A>G

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