WormBase Tree Display for Variation: WBVar00090600

WBVar00090600 Evidence: Paper_evidence: WBPaper00003406
  Name: Public_name: n2850
    Other_name: ZK1307.5.2:c.478C>T
      ZK1307.5.1:c.478C>T
      CE01694:p.Arg160Ter
    HGVSg: CHROMOSOME_II:g.9648540C>T
  Sequence_details: SMap: S_parent: Sequence: ZK1307
    Flanking_sequences: tcaaaaattccaaatacacatctaaatgct gaactccgtctgatcaaaaaatgagatacg
    Mapping_target: ZK1307
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003406
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00005026
    Transcript: ZK1307.5.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1307.5.2:c.478C>T
        HGVSp: CE01694:p.Arg160Ter
        cDNA_position: 573
        CDS_position: 478
        Protein_position: 160
        Exon_number: 5/7
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK1307.5.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1307.5.1:c.478C>T
        HGVSp: CE01694:p.Arg160Ter
        cDNA_position: 538
        CDS_position: 478
        Protein_position: 160
        Exon_number: 4/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: II 1.6258
  Description: Phenotype: WBPhenotype:0000040 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Some eggs fail to undergo cytokinesis Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000367 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000779 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Two- or three-fold embryos are arrested Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0006001 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00003405
  Method: Substitution_allele