WormBase Tree Display for Variation: WBVar00094929

WBVar00094929 Evidence: Paper_evidence: WBPaper00030973
  Name: Public_name: ot231
    Other_name: C18D1.1b.1:c.1489C>T
      CE51263:p.Gln521Ter
      C18D1.1a.1:c.1561C>T
      CE51425:p.Gln497Ter
    HGVSg: CHROMOSOME_II:g.10062583G>A
  Sequence_details: SMap: S_parent: Sequence: C18D1
    Flanking_sequences: agaggcgatgaagatgaggatgttgctctg agctgacaactgaagcagctcttcaaatgg
    Mapping_target: C18D1
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00030973
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029393
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00000995
    Transcript: C18D1.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C18D1.1a.1:c.1561C>T
        HGVSp: CE51263:p.Gln521Ter
        cDNA_position: 1561
        CDS_position: 1561
        Protein_position: 521
        Exon_number: 4/7
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      C18D1.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C18D1.1b.1:c.1489C>T
        HGVSp: CE51425:p.Gln497Ter
        cDNA_position: 1489
        CDS_position: 1489
        Protein_position: 497
        Exon_number: 3/5
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: II 1.87056
  Description: Phenotype: WBPhenotype:0000583 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: 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:0001414 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: 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
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is disrupted. 2 ASER Paper_evidence: WBPaper00030973
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00030973
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 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
  Reference: WBPaper00030973
  Method: Substitution_allele