WormBase Tree Display for Variation: WBVar00145223

WBVar00145223 Evidence: Paper_evidence: WBPaper00036313
  Name: Public_name: et5
    Other_name: R13F6.4f.1:c.2962C>T
      CE47066:p.Arg1062Ter
      CE46882:p.Arg988Ter
      R13F6.4e.1:c.3184C>T
      R13F6.4d.1:c.2725C>T
      CE42908:p.Arg909Ter
      R13F6.4a.2:c.2179C>T
      R13F6.4a.1:c.2179C>T
      CE46838:p.Arg727Ter
    HGVSg: CHROMOSOME_III:g.6840916C>T
  Sequence_details: SMap: S_parent: Sequence: R13F6
    Flanking_sequences: ggagcacgaagtgtcactcttcaatttctg gaacacaattccagtctgtcaagaagagcg
    Mapping_target: R13F6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00036313
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031159
    Laboratory: QC
    Status: Live
  Affects: Gene: WBGene00006498
    Transcript: R13F6.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13F6.4f.1:c.2962C>T
        HGVSp: CE46882:p.Arg988Ter
        cDNA_position: 2962
        CDS_position: 2962
        Protein_position: 988
        Exon_number: 11/17
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      R13F6.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13F6.4e.1:c.3184C>T
        HGVSp: CE47066:p.Arg1062Ter
        cDNA_position: 3184
        CDS_position: 3184
        Protein_position: 1062
        Exon_number: 13/19
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      R13F6.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13F6.4a.1:c.2179C>T
        HGVSp: CE46838:p.Arg727Ter
        cDNA_position: 2616
        CDS_position: 2179
        Protein_position: 727
        Exon_number: 8/15
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      R13F6.4a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13F6.4a.2:c.2179C>T
        HGVSp: CE46838:p.Arg727Ter
        cDNA_position: 2796
        CDS_position: 2179
        Protein_position: 727
        Exon_number: 11/18
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      R13F6.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13F6.4d.1:c.2725C>T
        HGVSp: CE42908:p.Arg909Ter
        cDNA_position: 2790
        CDS_position: 2725
        Protein_position: 909
        Exon_number: 11/17
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: III -0.933775
  Description: Phenotype: WBPhenotype:0000181 Paper_evidence: WBPaper00031671
        Curator_confirmed: WBPerson2021
        Remark: 8% of the NSM dorsal processes are missing Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00031671
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: zdIs13 [ tph-1p::GFP] Paper_evidence: WBPaper00031671
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000384 Paper_evidence: WBPaper00031671
        Curator_confirmed: WBPerson2021
        Remark: Some NSM neurons send grossly misguided branches Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00031671
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: zdIs13 [ tph-1p::GFP] Paper_evidence: WBPaper00031671
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001310 Paper_evidence: WBPaper00031671
        Curator_confirmed: WBPerson2021
        Remark: Some NSM cell bodies are misplaced or misshaped Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00031671
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: zdIs13 [ tph-1p::GFP] Paper_evidence: WBPaper00031671
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00031671
    WBPaper00036313
  Method: Substitution_allele