WormBase Tree Display for Variation: WBVar00089867

WBVar00089867 Evidence: Paper_evidence: WBPaper00002370
  Name: Public_name: n991
    Other_name: F28C1.2c.1:c.1178G>A
      CE46003:p.Trp393Ter
      CE45947:p.Trp393Ter
      CE24928:p.Trp393Ter
      F28C1.2b.1:c.1178G>A
      F28C1.2a.1:c.1178G>A
    HGVSg: CHROMOSOME_V:g.12457354C>T
  Sequence_details: SMap: S_parent: Sequence: F28C1
    Flanking_sequences: ctgatccttttcaatcacagcctaatccat gattaacgatactgttgatttttggcaaca
    Mapping_target: F28C1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002370
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001179
    Transcript: F28C1.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F28C1.2c.1:c.1178G>A
        HGVSp: CE46003:p.Trp393Ter
        cDNA_position: 1370
        CDS_position: 1178
        Protein_position: 393
        Exon_number: 8/12
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F28C1.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F28C1.2b.1:c.1178G>A
        HGVSp: CE45947:p.Trp393Ter
        cDNA_position: 1178
        CDS_position: 1178
        Protein_position: 393
        Exon_number: 7/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F28C1.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F28C1.2a.1:c.1178G>A
        HGVSp: CE24928:p.Trp393Ter
        cDNA_position: 1370
        CDS_position: 1178
        Protein_position: 393
        Exon_number: 8/11
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 4.25512
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: The penetrance of the egg-laying defect in n991 heterozygotes is heat-sensitive (especially at 25 C). See Table 7 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: As shown in Table 5, 1 percent of heterozygotes are Egl. Under homozygous conditions, 100 percent of hermaphrodites are Egl Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001340 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: See Table 1 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 83 83 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001068 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 7.5 mg/ml serotonin Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00001133
  Method: Substitution_allele