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Items: 11

1.

rs28897689 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    17:43091492 (GRCh38)
    17:41243509 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43091491:T:A,NC_000017.11:43091491:T:C
    Gene:
    BRCA1 (Varview)
    Functional Consequence:
    stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
    Clinical significance:
    benign-likely-benign,pathogenic,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.006384/618 (ALFA)
    C=0./0 (Daghestan)
    C=0.000599/3 (1000Genomes)
    C=0.001919/151 (PAGE_STUDY)
    C=0.003289/1 (FINRISK)
    C=0.003823/960 (GnomAD_exomes)
    C=0.00398/483 (ExAC)
    C=0.004235/133 (GnomAD)
    C=0.00481/604 (TOPMED)
    C=0.004844/63 (GoESP)
    C=0.005357/24 (Estonian)
    C=0.0059/4 (HapMap)
    C=0.006012/6 (GoNL)
    C=0.006472/24 (TWINSUK)
    C=0.008822/34 (ALSPAC)
    C=0.01/6 (NorthernSweden)
    T=0.5/2 (SGDP_PRJ)
    HGVS:
    2.

    rs80356860 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      17:43063909 (GRCh38)
      17:41215926 (GRCh37)
      Canonical SPDI:
      NC_000017.11:43063908:C:G,NC_000017.11:43063908:C:T
      Gene:
      BRCA1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Clinical significance:
      pathogenic-likely-pathogenic,likely-benign,pathogenic,benign,likely-pathogenic,benign-likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000041/5 (ExAC)
      G=0.000048/12 (GnomAD_exomes)
      G=0.000056/7 (TOPMED)
      G=0.000077/1 (GoESP)
      G=0.0002/1 (1000Genomes)
      T=0.000223/1 (Estonian)
      G=0.001873/1 (MGP)
      G=0.003289/1 (FINRISK)
      HGVS:
      NC_000017.11:g.43063909C>G, NC_000017.11:g.43063909C>T, NC_000017.10:g.41215926C>G, NC_000017.10:g.41215926C>T, NG_005905.2:g.154075G>C, NG_005905.2:g.154075G>A, NM_007300.4:c.5180G>C, NM_007300.4:c.5180G>A, NM_007300.3:c.5180G>C, NM_007300.3:c.5180G>A, NM_007294.4:c.5117G>C, NM_007294.4:c.5117G>A, NM_007294.3:c.5117G>C, NM_007294.3:c.5117G>A, NM_007297.4:c.4976G>C, NM_007297.4:c.4976G>A, NM_007297.3:c.4976G>C, NM_007297.3:c.4976G>A, NM_007299.4:c.1805G>C, NM_007299.4:c.1805G>A, NM_007299.3:c.1805G>C, NM_007299.3:c.1805G>A, NM_007298.3:c.1805G>C, NM_007298.3:c.1805G>A, NR_027676.2:n.5294G>C, NR_027676.2:n.5294G>A, NR_027676.1:n.5253G>C, NR_027676.1:n.5253G>A, NP_009231.2:p.Gly1727Ala, NP_009231.2:p.Gly1727Glu, NP_009225.1:p.Gly1706Ala, NP_009225.1:p.Gly1706Glu, NP_009228.2:p.Gly1659Ala, NP_009228.2:p.Gly1659Glu, NP_009230.2:p.Gly602Ala, NP_009230.2:p.Gly602Glu, NP_009229.2:p.Gly602Ala, NP_009229.2:p.Gly602Glu
      3.

      rs80356888 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        17:43104173 (GRCh38)
        17:41256190 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43104172:G:A,NC_000017.11:43104172:G:C,NC_000017.11:43104172:G:T
        Gene:
        BRCA1 (Varview)
        Functional Consequence:
        synonymous_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
        Clinical significance:
        likely-benign,pathogenic
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000008/1 (ExAC)
        A=0.0002/1 (1000Genomes)
        T=0.000342/1 (KOREAN)
        HGVS:
        NC_000017.11:g.43104173G>A, NC_000017.11:g.43104173G>C, NC_000017.11:g.43104173G>T, NC_000017.10:g.41256190G>A, NC_000017.10:g.41256190G>C, NC_000017.10:g.41256190G>T, NG_005905.2:g.113811C>T, NG_005905.2:g.113811C>G, NG_005905.2:g.113811C>A, NM_007300.4:c.390C>T, NM_007300.4:c.390C>G, NM_007300.4:c.390C>A, NM_007300.3:c.390C>T, NM_007300.3:c.390C>G, NM_007300.3:c.390C>A, NM_007294.4:c.390C>T, NM_007294.4:c.390C>G, NM_007294.4:c.390C>A, NM_007294.3:c.390C>T, NM_007294.3:c.390C>G, NM_007294.3:c.390C>A, NM_007297.4:c.249C>T, NM_007297.4:c.249C>G, NM_007297.4:c.249C>A, NM_007297.3:c.249C>T, NM_007297.3:c.249C>G, NM_007297.3:c.249C>A, NM_007299.4:c.390C>T, NM_007299.4:c.390C>G, NM_007299.4:c.390C>A, NM_007299.3:c.390C>T, NM_007299.3:c.390C>G, NM_007299.3:c.390C>A, NM_007298.3:c.390C>T, NM_007298.3:c.390C>G, NM_007298.3:c.390C>A, NR_027676.2:n.570C>T, NR_027676.2:n.570C>G, NR_027676.2:n.570C>A, NR_027676.1:n.529C>T, NR_027676.1:n.529C>G, NR_027676.1:n.529C>A, NP_009231.2:p.Tyr130Ter, NP_009231.2:p.Tyr130Ter, NP_009225.1:p.Tyr130Ter, NP_009225.1:p.Tyr130Ter, NP_009228.2:p.Tyr83Ter, NP_009228.2:p.Tyr83Ter, NP_009230.2:p.Tyr130Ter, NP_009230.2:p.Tyr130Ter, NP_009229.2:p.Tyr130Ter, NP_009229.2:p.Tyr130Ter
        4.
        5.

        rs80357147 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          17:43093376 (GRCh38)
          17:41245393 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43093375:T:A,NC_000017.11:43093375:T:C
          Gene:
          BRCA1 (Varview)
          Functional Consequence:
          stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
          Clinical significance:
          conflicting-interpretations-of-pathogenicity,pathogenic,uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.00004/10 (GnomAD_exomes)
          C=0.000041/5 (ExAC)
          C=0.0002/1 (1000Genomes)
          C=0.000247/31 (TOPMED)
          C=0.000318/10 (GnomAD)
          C=0.000381/30 (PAGE_STUDY)
          C=0.000384/5 (GoESP)
          HGVS:
          6.

          rs80357220 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            17:43093712 (GRCh38)
            17:41245729 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43093711:T:A,NC_000017.11:43093711:T:C
            Gene:
            BRCA1 (Varview)
            Functional Consequence:
            stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
            Clinical significance:
            pathogenic,uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000008/1 (ExAC)
            C=0.000016/2 (TOPMED)
            C=0.0002/1 (1000Genomes)
            HGVS:
            7.

            rs80358027 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              17:43082403 (GRCh38)
              17:41234420 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43082402:C:A,NC_000017.11:43082402:C:G,NC_000017.11:43082402:C:T
              Gene:
              BRCA1 (Varview)
              Functional Consequence:
              splice_donor_variant
              Clinical significance:
              likely-pathogenic,pathogenic
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0./0 (PAGE_STUDY)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000008/1 (ExAC)
              T=0.000016/2 (TOPMED)
              T=0.0002/1 (1000Genomes)
              HGVS:
              10.

              rs562553169 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                17:43094360 (GRCh38)
                17:41246377 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43094359:C:A,NC_000017.11:43094359:C:G
                Gene:
                BRCA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained,intron_variant,non_coding_transcript_variant,missense_variant
                Clinical significance:
                pathogenic
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/1 (ExAC)
                G=0.0002/1 (1000Genomes)
                HGVS:
                11.

                rs386576389 has merged into rs28897689 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  17:43091492 (GRCh38)
                  17:41243509 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43091491:T:A,NC_000017.11:43091491:T:C
                  Gene:
                  BRCA1 (Varview)
                  Functional Consequence:
                  stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                  Clinical significance:
                  benign-likely-benign,pathogenic,benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.006384/618 (ALFA)
                  C=0./0 (Daghestan)
                  C=0.000599/3 (1000Genomes)
                  C=0.001919/151 (PAGE_STUDY)
                  C=0.003289/1 (FINRISK)
                  C=0.003823/960 (GnomAD_exomes)
                  C=0.00398/483 (ExAC)
                  C=0.004235/133 (GnomAD)
                  C=0.00481/604 (TOPMED)
                  C=0.004844/63 (GoESP)
                  C=0.005357/24 (Estonian)
                  C=0.0059/4 (HapMap)
                  C=0.006012/6 (GoNL)
                  C=0.006472/24 (TWINSUK)
                  C=0.008822/34 (ALSPAC)
                  C=0.01/6 (NorthernSweden)
                  T=0.5/2 (SGDP_PRJ)
                  HGVS:

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