WormBase Tree Display for Variation: WBVar00143023

WBVar00143023 Evidence: Person_evidence: WBPerson499
  Name: Public_name: e189
    Other_name: ZK637.8a.1:c.614+288G>A
      ZK637.8e.1:c.460-345G>A
      ZK637.8f.1:c.460-1G>A
      ZK637.8c.1:c.460-345G>A
      ZK637.8b.1:c.460-1G>A
      ZK637.8d.1:c.614+288G>A
    HGVSg: CHROMOSOME_III:g.8906966G>A
  Sequence_details: SMap: S_parent: Sequence: ZK637
    Flanking_sequences: taaaatctccttcactaacaca gccgggactggagaaatgttgcca
    Mapping_target: ZK637
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (303)
    Laboratory: CB
      OJ
    Status: Live
  Affects: Gene: WBGene00006768
    Transcript: ZK637.8c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: ZK637.8c.1:c.460-345G>A
        Intron_number: 4/11
      ZK637.8f.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: ZK637.8f.1:c.460-1G>A
        Intron_number: 4/11
      ZK637.8e.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: ZK637.8e.1:c.460-345G>A
        Intron_number: 4/11
      ZK637.8d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: ZK637.8d.1:c.614+288G>A
        Intron_number: 5/11
      ZK637.8b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: ZK637.8b.1:c.460-1G>A
        Intron_number: 4/11
      ZK637.8a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: ZK637.8a.1:c.614+288G>A
        Intron_number: 5/11
    Interactor: WBInteraction000524785
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: III -0.00184685
    Mapping_data: In_2_point (31)
      In_multi_point (171)
      In_pos_neg_data: 806
        3726
  Description: Phenotype: WBPhenotype:0000004 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weakly Egl-c Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000016 Paper_evidence: WBPaper00037623
        Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00037623
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Paper_evidence: WBPaper00037623
                Curator_confirmed: WBPerson712
      WBPhenotype:0000017 Paper_evidence: WBPaper00035198
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000020 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        Remark: Slightly irregular pumping Paper_evidence: WBPaper00001709
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: rather thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: rather small Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000565 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: severe coiler, little movement in adult; moves well in L1 but coils in response to touch in L2 and later stages Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000027 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBls:0000035 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBls:0000038 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001716 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002241 Paper_evidence: WBPaper00064400
        Curator_confirmed: WBPerson11689
        Remark: measured by the bacterial clearance assay Paper_evidence: WBPaper00064400
            Curator_confirmed: WBPerson11689
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002291 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002308 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002323 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002335 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002345 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference (32)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele