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Links from Protein

Items: 1 to 20 of 71

1.

rs780826982 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C
    Chromosome:
    11:30232004
    Gene:
    FSHB (Varview), LOC105376607 (Varview)
    Functional Consequence:
    missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.0000/3 (ExAC)
    C=0.0000/6 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.30232004A>C, NC_000011.9:g.30253551A>C, NG_008144.1:g.5989A>C, NM_000510.2:c.102A>C, NM_001018080.1:c.102A>C, NP_000501.1:p.Glu34Asp, NP_001018090.1:p.Glu34Asp
    2.

    rs780498714 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C
      Chromosome:
      11:30233718
      Gene:
      FSHB (Varview), LOC105376607 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant
      HGVS:
      NC_000011.10:g.30233718G>C, NC_000011.9:g.30255265G>C, NG_008144.1:g.7703G>C, NM_000510.2:c.308G>C, NM_001018080.1:c.308G>C, NP_000501.1:p.Gly103Ala, NP_001018090.1:p.Gly103Ala
      3.

      rs779516679 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G
        Chromosome:
        11:30231979
        Gene:
        FSHB (Varview), LOC105376607 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.0000/2 (ExAC)
        G=0.0000/2 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.30231979T>G, NC_000011.9:g.30253526T>G, NG_008144.1:g.5964T>G, NM_000510.2:c.77T>G, NM_001018080.1:c.77T>G, NP_000501.1:p.Ile26Ser, NP_001018090.1:p.Ile26Ser
        4.

        rs779420942 has merged into rs5030646 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTG>G
          Chromosome:
          11:30233645
          Gene:
          FSHB (Varview), LOC105376607 (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift,intron_variant
          Clinical significance:
          likely-pathogenic,pathogenic
          Validated:
          by frequency,by cluster
          MAF:
          -=0.0001/14 (ExAC)
          -=0.0001/26 (GnomAD_exomes)
          -=0.0001/9 (TOPMED)
          HGVS:
          NC_000011.10:g.30233646_30233647delTG, NC_000011.9:g.30255193_30255194delTG, NG_008144.1:g.7631_7632delTG, NM_000510.2:c.236_237delTG, NM_001018080.1:c.236_237delTG, NP_000501.1:p.Val79fs, NP_001018090.1:p.Val79fs
          5.

          rs779337728 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C
            Chromosome:
            11:30233743
            Gene:
            FSHB (Varview), LOC105376607 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.0000/1 (TOPMED)
            C=0.0000/2 (ExAC)
            C=0.0000/3 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.30233743T>C, NC_000011.9:g.30255290T>C, NG_008144.1:g.7728T>C, NM_000510.2:c.333T>C, NM_001018080.1:c.333T>C
            6.

            rs779215894 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T
              Chromosome:
              11:30233659
              Gene:
              FSHB (Varview), LOC105376607 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.0000/1 (ExAC)
              HGVS:
              NC_000011.10:g.30233659C>T, NC_000011.9:g.30255206C>T, NG_008144.1:g.7644C>T, NM_000510.2:c.249C>T, NM_001018080.1:c.249C>T
              7.

              rs777302591 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C
                Chromosome:
                11:30233650
                Gene:
                FSHB (Varview), LOC105376607 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.0000/1 (ExAC)
                C=0.0000/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.30233650A>C, NC_000011.9:g.30255197A>C, NG_008144.1:g.7635A>C, NM_000510.2:c.240A>C, NM_001018080.1:c.240A>C, NP_000501.1:p.Arg80Ser, NP_001018090.1:p.Arg80Ser
                8.

                rs775643317 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A
                  Chromosome:
                  11:30233673
                  Gene:
                  FSHB (Varview), LOC105376607 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.0000/1 (ExAC)
                  A=0.0000/2 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.30233673C>A, NC_000011.9:g.30255220C>A, NG_008144.1:g.7658C>A, NM_000510.2:c.263C>A, NM_001018080.1:c.263C>A, NP_000501.1:p.Ala88Glu, NP_001018090.1:p.Ala88Glu
                  9.

                  rs774392083 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A
                    Chromosome:
                    11:30232041
                    Gene:
                    FSHB (Varview), LOC105376607 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.0000/1 (ExAC)
                    A=0.0000/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.30232041G>A, NC_000011.9:g.30253588G>A, NG_008144.1:g.6026G>A, NM_000510.2:c.139G>A, NM_001018080.1:c.139G>A, NP_000501.1:p.Ala47Thr, NP_001018090.1:p.Ala47Thr
                    10.

                    rs774387519 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G
                      Chromosome:
                      11:30233797
                      Gene:
                      FSHB (Varview), LOC105376607 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.0000/1 (ExAC)
                      G=0.0000/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.30233797A>G, NC_000011.9:g.30255344A>G, NG_008144.1:g.7782A>G, NM_000510.2:c.387A>G, NM_001018080.1:c.387A>G
                      11.

                      rs774299660 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T
                        Chromosome:
                        11:30233704
                        Gene:
                        FSHB (Varview), LOC105376607 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.0000/1 (ExAC)
                        T=0.0000/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.30233704C>T, NC_000011.9:g.30255251C>T, NG_008144.1:g.7689C>T, NM_000510.2:c.294C>T, NM_001018080.1:c.294C>T
                        12.

                        rs773628212 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C
                          Chromosome:
                          11:30232018
                          Gene:
                          FSHB (Varview), LOC105376607 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.0000/4 (ExAC)
                          C=0.0001/17 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.30232018T>C, NC_000011.9:g.30253565T>C, NG_008144.1:g.6003T>C, NM_000510.2:c.116T>C, NM_001018080.1:c.116T>C, NP_000501.1:p.Ile39Thr, NP_001018090.1:p.Ile39Thr
                          13.

                          rs773435218 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A
                            Chromosome:
                            11:30231923
                            Gene:
                            FSHB (Varview), LOC105376607 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.0000/1 (GnomAD_exomes)
                            A=0.0000/2 (ExAC)
                            HGVS:
                            NC_000011.10:g.30231923C>A, NC_000011.9:g.30253470C>A, NG_008144.1:g.5908C>A, NM_000510.2:c.21C>A, NM_001018080.1:c.21C>A, NP_000501.1:p.Phe7Leu, NP_001018090.1:p.Phe7Leu
                            14.

                            rs772297396 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A
                              Chromosome:
                              11:30233672
                              Gene:
                              FSHB (Varview), LOC105376607 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.0000/1 (ExAC)
                              A=0.0000/2 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.30233672G>A, NC_000011.9:g.30255219G>A, NG_008144.1:g.7657G>A, NM_000510.2:c.262G>A, NM_001018080.1:c.262G>A, NP_000501.1:p.Ala88Thr, NP_001018090.1:p.Ala88Thr
                              15.

                              rs770834784 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T
                                Chromosome:
                                11:30233703
                                Gene:
                                FSHB (Varview), LOC105376607 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.0000/1 (ExAC)
                                HGVS:
                                NC_000011.10:g.30233703C>T, NC_000011.9:g.30255250C>T, NG_008144.1:g.7688C>T, NM_000510.2:c.293C>T, NM_001018080.1:c.293C>T, NP_000501.1:p.Thr98Ile, NP_001018090.1:p.Thr98Ile
                                16.

                                rs770795354 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A
                                  Chromosome:
                                  11:30233786
                                  Gene:
                                  FSHB (Varview), LOC105376607 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.0000/1 (ExAC)
                                  A=0.0000/1 (GnomAD_exomes)
                                  A=0.0000/1 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.30233786G>A, NC_000011.9:g.30255333G>A, NG_008144.1:g.7771G>A, NM_000510.2:c.376G>A, NM_001018080.1:c.376G>A, NP_000501.1:p.Glu126Lys, NP_001018090.1:p.Glu126Lys
                                  17.

                                  rs770418547 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T
                                    Chromosome:
                                    11:30232015
                                    Gene:
                                    FSHB (Varview), LOC105376607 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.0000/1 (ExAC)
                                    T=0.0000/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.30232015G>A, NC_000011.10:g.30232015G>T, NC_000011.9:g.30253562G>A, NC_000011.9:g.30253562G>T, NG_008144.1:g.6000G>A, NG_008144.1:g.6000G>T, NM_000510.2:c.113G>A, NM_000510.2:c.113G>T, NM_001018080.1:c.113G>A, NM_001018080.1:c.113G>T, NP_000501.1:p.Cys38Tyr, NP_000501.1:p.Cys38Phe, NP_001018090.1:p.Cys38Tyr, NP_001018090.1:p.Cys38Phe
                                    18.

                                    rs770330659 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A
                                      Chromosome:
                                      11:30231908
                                      Gene:
                                      FSHB (Varview), LOC105376607 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.0000/1 (GnomAD)
                                      A=0.0000/2 (ExAC)
                                      A=0.0000/3 (GnomAD_exomes)
                                      A=0.0000/3 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.30231908G>A, NC_000011.9:g.30253455G>A, NG_008144.1:g.5893G>A, NM_000510.2:c.6G>A, NM_001018080.1:c.6G>A
                                      19.

                                      rs768918513 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A
                                        Chromosome:
                                        11:30233757
                                        Gene:
                                        FSHB (Varview), LOC105376607 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.0000/5 (ExAC)
                                        A=0.0000/6 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.30233757G>A, NC_000011.9:g.30255304G>A, NG_008144.1:g.7742G>A, NM_000510.2:c.347G>A, NM_001018080.1:c.347G>A, NP_000501.1:p.Gly116Asp, NP_001018090.1:p.Gly116Asp
                                        20.

                                        rs768659444 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C
                                          Chromosome:
                                          11:30233678
                                          Gene:
                                          FSHB (Varview), LOC105376607 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.0000/1 (ExAC)
                                          C=0.0000/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.30233678T>C, NC_000011.9:g.30255225T>C, NG_008144.1:g.7663T>C, NM_000510.2:c.268T>C, NM_001018080.1:c.268T>C, NP_000501.1:p.Ser90Pro, NP_001018090.1:p.Ser90Pro

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