WormBase Tree Display for Variation: WBVar00000610

WBVar00000610 Evidence: Paper_evidence: WBPaper00027335
  Name: Public_name: bx132
    Other_name: CE42345:p.Arg509Ter
      CE27581:p.Arg523Ter
      C39F7.2a.1:c.1567C>T
      C39F7.2b.1:c.1525C>T
    HGVSg: CHROMOSOME_V:g.1226033G>A
  Sequence_details: SMap: S_parent: Sequence: C39F7
    Flanking_sequences: aacaactcggttactgtagtctggaggcct gaaatgacggaagcgcagttgatggattcg
    Mapping_target: C39F7
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00027335
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007190
    Laboratory: EM
    Status: Live
  Affects: Gene: WBGene00016539
    Transcript: C39F7.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C39F7.2a.1:c.1567C>T
        HGVSp: CE27581:p.Arg523Ter
        cDNA_position: 1578
        CDS_position: 1567
        Protein_position: 523
        Exon_number: 10/15
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C39F7.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C39F7.2b.1:c.1525C>T
        HGVSp: CE42345:p.Arg509Ter
        cDNA_position: 1546
        CDS_position: 1525
        Protein_position: 509
        Exon_number: 9/14
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: V -19.8477
  Description: Phenotype: WBPhenotype:0000227 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
      WBPhenotype:0000384 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Remark: Ray 1 axon. Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
      WBPhenotype:0000470 Paper_evidence: WBPaper00038152
        Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00038152
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00038152
                Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Remark: Ray 1 axon. Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
      WBPhenotype:0000843 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
      WBPhenotype:0001224 Paper_evidence: WBPaper00027335
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
        Remark: Lateral to ventral ray axon outgrowth abnormal. Paper_evidence: WBPaper00027335
            Person_evidence: WBPerson261
            Curator_confirmed: WBPerson48
      WBPhenotype:0001227 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Remark: Ray axons: R1, R2/3, R4/5. Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Paper_evidence: WBPaper00027335
              Curator_confirmed: WBPerson48
          Range: 9 54 Paper_evidence: WBPaper00027335
                Curator_confirmed: WBPerson48
      WBPhenotype:0001239 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
      WBPhenotype:0002490 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Remark: Ray 1 axon Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
        EQ_annotations: Anatomy_term: WBbt:0006942 PATO:0000460 Paper_evidence: WBPaper00027335
                Curator_confirmed: WBPerson48
          GO_term: GO:0030424 PATO:0000460 Paper_evidence: WBPaper00027335
                Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000882 Paper_evidence: WBPaper00027335
        Curator_confirmed: WBPerson48
        Remark: Formation of ray dendrites is normal. Paper_evidence: WBPaper00027335
            Curator_confirmed: WBPerson48
  Reference: WBPaper00038152
    WBPaper00027335
  Method: Substitution_allele