WormBase Tree Display for Variation: WBVar00094836

WBVar00094836 Evidence: Paper_evidence: WBPaper00030973
  Name: Public_name: ot107
    Other_name: R03C1.3b.1:c.222G>A
      CE33290:p.Trp74Ter
      R03C1.3a.1:c.672G>A
      CE25964:p.Trp224Ter
    HGVSg: CHROMOSOME_II:g.14907040G>A
  Sequence_details: SMap: S_parent: Sequence: R03C1
    Flanking_sequences: ggtgtggttccaaaaccgtcgtacaaaatg cgcaagaaggaagcggccgacaatgcactg
    Mapping_target: R03C1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00030973
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00000584
    Transcript: R03C1.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R03C1.3b.1:c.222G>A
        HGVSp: CE33290:p.Trp74Ter
        cDNA_position: 361
        CDS_position: 222
        Protein_position: 74
        Exon_number: 4/5
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R03C1.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R03C1.3a.1:c.672G>A
        HGVSp: CE25964:p.Trp224Ter
        cDNA_position: 698
        CDS_position: 672
        Protein_position: 224
        Exon_number: 5/6
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: II 23.6991
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 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
      WBPhenotype:0000688 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 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
      WBPhenotype:0001660 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is disrupted. 2 ASEL Paper_evidence: WBPaper00030973
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 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
        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