WormBase Tree Display for Variation: WBVar00089279

WBVar00089279 Evidence: Paper_evidence: WBPaper00002436
  Name: Public_name: n106
    Other_name: CE43616:p.Arg50Ter
      CE43589:p.Arg50Ter
      Y54G11A.10a.1:c.148C>T
      Y54G11A.10b.1:c.148C>T
    HGVSg: CHROMOSOME_II:g.14348645G>A
  Sequence_details: SMap: S_parent: Sequence: Y54G11A
    Flanking_sequences: gtgctacaatccgaatttttcggtgccgtc gagaggtctatgagactgtttatgaatcaa
    Mapping_target: Y54G11A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002436
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026701
      WBStrain00031251
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00002996
    Transcript: Y54G11A.10b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y54G11A.10b.1:c.148C>T
        HGVSp: CE43616:p.Arg50Ter
        cDNA_position: 472
        CDS_position: 148
        Protein_position: 50
        Exon_number: 3/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y54G11A.10a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y54G11A.10a.1:c.148C>T
        HGVSp: CE43589:p.Arg50Ter
        cDNA_position: 148
        CDS_position: 148
        Protein_position: 50
        Exon_number: 1/5
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000524578
      WBInteraction000555208
  Genetics: Interpolated_map_position: II 22.907
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000698 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: 50 percent of the Vul hermaphrodites have 1 or more ventral protrusions. Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
          Range: 33 33 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000699 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000700 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00000762
  Method: Substitution_allele