WormBase Tree Display for Variation: WBVar00142989

WBVar00142989 Evidence: Person_evidence: WBPerson11112
  Name: Public_name: e138
    Other_name: e138am
      F57H12.2.1:c.445C>T
      CE52881:p.Gln149Ter
    HGVSg: CHROMOSOME_IV:g.7980970C>T
  Sequence_details: SMap: S_parent: Sequence: F57H12
    Flanking_sequences: aaattggtagttttacgcctgggaagagct agaagacaagaggacctggtataactttag
    Mapping_target: F57H12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (89)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006761
    Transcript: F57H12.2.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F57H12.2.1:c.445C>T
        HGVSp: CE52881:p.Gln149Ter
        cDNA_position: 458
        CDS_position: 445
        Protein_position: 149
        Exon_number: 5/8
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000500601
      WBInteraction000519108
      WBInteraction000519121
      WBInteraction000524784
      WBInteraction000556982
      WBInteraction000556983
      WBInteraction000556984
      WBInteraction000556985
  Genetics: Interpolated_map_position: IV 3.51487
    Mapping_data: In_2_point (21)
      In_multi_point: 98
        101
        106
        108
        159
        332
        333
        334
        339
        340
        341
        349
        541
        593
        594
        595
        598
        602
        603
        780
        899
        902
        909
        910
        912
        1115
        1117
        1121
        1139
        1264
        1266
        1292
        1518
        1535
        1641
        1642
        1654
        1720
        1743
        1766
        1767
        1820
        1822
        1829
        1876
        1882
        1884
        1894
        1895
        1909
        1911
        1912
        1922
        1924
        1928
        1929
        2021
        2026
        2046
        2067
        2068
        2090
        2152
        2153
        2154
        2155
        2156
        2464
        2465
        2652
        2720
        2721
        2722
        2723
        2724
        2725
        2726
        2727
        2728
        2729
        2730
        2731
        2785
        3018
        3032
        3033
        3129
        3131
        3133
        3151
        3152
        3153
        3240
        3249
        3250
        3270
        3271
        3430
        3431
        3432
        3433
        3437
        4054
        4056
        5466
      In_pos_neg_data: 960
        966
        2735
        3702
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weak kinker, severe kinker in L1 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000353 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to back Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000551 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: often forms omega shape Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000032 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: fairly active; healthy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference: WBPaper00040284
    WBPaper00014528
    WBPaper00000031
    WBPaper00013927
    WBPaper00013987
    WBPaper00015247
    WBPaper00013817
    WBPaper00013879
    WBPaper00061173
    WBPaper00065317
  Remark: Created by WBPerson51134 from the NN_VFP_triage_pipeline
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
  Method: Substitution_allele