WormBase Tree Display for Variation: WBVar00094941

WBVar00094941 Evidence: Paper_evidence: WBPaper00030973
  Name: Public_name: ot243
    Other_name: W02D3.9.1:c.1468C>T
      CE14434:p.Arg490Ter
    HGVSg: CHROMOSOME_I:g.6743413G>A
  Sequence_details: SMap: S_parent: Sequence: W02D3
    Flanking_sequences: aattctgttagatgctgggatcttgcacaa gaaaggaagttgcgaagcatgattttgcga
    Mapping_target: W02D3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00030973
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00006773
    Transcript: W02D3.9.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: W02D3.9.1:c.1468C>T
        HGVSp: CE14434:p.Arg490Ter
        cDNA_position: 1473
        CDS_position: 1468
        Protein_position: 490
        Exon_number: 6/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: I 1.30417
  Description: Phenotype: WBPhenotype:0000052 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00030973
                Curator_confirmed: WBPerson2021
        Maternal
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Genotype: otIs114 [lim-6p::GFP] Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Genotype: otIs114 [lim-6p::GFP] Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00030973
          WBPaper00036225
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is disrupted. 2 ASEL Paper_evidence: WBPaper00030973
            Curator_confirmed: WBPerson2021
          Lsy phenotype - 2ASEL Paper_evidence: WBPaper00036225
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 25 percent Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00030973
                Curator_confirmed: WBPerson2021
            WBbt:0003903 PATO:0000460 Paper_evidence: WBPaper00036225
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Genotype: otIs114 [lim-6p::GFP] Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00030973
    WBPaper00036225
  Method: Substitution_allele