WormBase Tree Display for Variation: WBVar00241532

WBVar00241532 Evidence: Paper_evidence: WBPaper00026842
  Name: Public_name: rh80
    Other_name: CE25673:p.Trp893Ter
      CE32767:p.Trp883Ter
      CE28273:p.Trp907Ter
      CE25672:p.Trp898Ter
      ZC504.4a.1:c.2694G>A
      ZC504.4d.1:c.2649G>A
      ZC504.4b.1:c.2679G>A
      ZC504.4c.1:c.2721G>A
    HGVSg: CHROMOSOME_X:g.10423132C>T
  Sequence_details: SMap: S_parent: Sequence: ZC504
    Flanking_sequences: tctagagtcgtcaattgagatttatgcgtg gcaccgaagccataccataagttcatgagt
    Mapping_target: ZC504
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00026842
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00024148
      WBStrain00028841
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00003247
    Transcript: ZC504.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4d.1:c.2649G>A
        HGVSp: CE32767:p.Trp883Ter
        cDNA_position: 2732
        CDS_position: 2649
        Protein_position: 883
        Exon_number: 14/18
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZC504.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4a.1:c.2694G>A
        HGVSp: CE25672:p.Trp898Ter
        cDNA_position: 2770
        CDS_position: 2694
        Protein_position: 898
        Exon_number: 13/17
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZC504.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4c.1:c.2721G>A
        HGVSp: CE28273:p.Trp907Ter
        cDNA_position: 2721
        CDS_position: 2721
        Protein_position: 907
        Exon_number: 13/17
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZC504.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4b.1:c.2679G>A
        HGVSp: CE25673:p.Trp893Ter
        cDNA_position: 2755
        CDS_position: 2679
        Protein_position: 893
        Exon_number: 13/17
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: X 2.1894
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000680 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited wild type-sensitivities to aldicarb. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00000551
  Reference: WBPaper00035198
    WBPaper00026842
    WBPaper00032247
  Method: Substitution_allele