WormBase Tree Display for Variation: WBVar00143287

WBVar00143287 Evidence: Paper_evidence: WBPaper00005955
  Name: Public_name: e541
    Other_name: Y37D8A.13.1:c.1669G>A
      CE20217:p.Ala557Thr
    HGVSg: CHROMOSOME_III:g.12884095C>T
  Sequence_details: SMap: S_parent: Sequence: Y37D8A
    Flanking_sequences: cagaagctttggggacgagaagctcgagtt cggagccagtgtgctttgagcagaatacca
    Mapping_target: Y37D8A
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004180
      WBStrain00006386
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006804
    Transcript: Y37D8A.13.1 (12)
    Interactor: WBInteraction000518928
  Genetics: Interpolated_map_position: III 19.2674
    Mapping_data: In_2_point: 76
        88
        4235
      In_multi_point: 63
        256
        1505
        1660
        3263
      In_pos_neg_data: 353
        5733
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Strong kinker, especially in reverse. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000006 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 4 4 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000181 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons are posteriorly misdirected and never reach the nerve ring Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 15 15 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSNs fail to arrive at their final destination (between P5/6 and V4) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
          WBPaper00001105
        Curator_confirmed: WBPerson48
          WBPerson2021
      WBPhenotype:0000880 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Variable defects in axonal elongation and fasciculation. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons show anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 8 8 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001226 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Commissures sometimes on wrong side. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Fairly active. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00017709
    WBPaper00032446
    WBPaper00000031
    WBPaper00001105
    WBPaper00016473
    WBPaper00019269
    WBPaper00011608
  Method: Substitution_allele