WormBase Tree Display for Variation: WBVar00143470

WBVar00143470 Evidence: Person_evidence: WBPerson10095
  Name: Public_name: e768
    Other_name: CE11540:p.Gly179Glu
      F59E12.2.1:c.1310+537C>T
      F59E12.12.1:c.536G>A
    HGVSg: CHROMOSOME_II:g.5651839C>T
  Sequence_details: SMap: S_parent: Sequence: F59E12
    Flanking_sequences: ttcccgtttcttcctggttgtccctttgat caatatttcctggtggtcctggtggcccta
    Mapping_target: F59E12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (15)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000252
      WBGene00006988
    Transcript: F59E12.12.1 (12)
      F59E12.2.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F59E12.2.1:c.1310+537C>T
        Intron_number: 5/8
    Interactor: WBInteraction000052481
      WBInteraction000052507
      WBInteraction000052510
      WBInteraction000052514
      WBInteraction000052515
      WBInteraction000052528
      WBInteraction000052529
      WBInteraction000052530
      WBInteraction000052534
      WBInteraction000052535
  Genetics: Interpolated_map_position: II -0.988396
    Mapping_data: In_2_point: 37
        38
        39
        621
        3787
        4219
        4225
      In_multi_point (18)
      In_pos_neg_data: 457
        1524
        1526
        1528
        1533
        7119
  Description: Phenotype: WBPhenotype:0000025 Paper_evidence: WBPaper00000031
          WBPaper00000465
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: adult blistered especially head; enhanced 25C. Easy to score (ES3) old adult. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly small; enhanced 25C Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
  Reference: WBPaper00001328
    WBPaper00000031
    WBPaper00000465
    WBPaper00016398
    WBPaper00016094
    WBPaper00061175
    WBPaper00061945
  Remark: Created by WBPerson51134 from the NN_VFP_triage_pipeline
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Variation information submitted by WBPerson10095 on 2022-02-17_15:17:42 via the Allele submission form. Received data and remarks refer to the negative strand sequence (CDS). Curator_confirmed: WBPerson51134
    alt_det = g to a mut_det = G179E Person_evidence: WBPerson10095
      Curator_confirmed: WBPerson51134
  Method: Substitution_allele