WormBase Tree Display for Variation: WBVar00241608

WBVar00241608 Evidence: Paper_evidence: WBPaper00026842
  Name: Public_name: rh326
    Other_name: CE28273:p.Gln439Ter
      CE25673:p.Gln434Ter
      CE32767:p.Gln424Ter
      ZC504.4a.1:c.1315C>T
      ZC504.4b.1:c.1300C>T
      ZC504.4c.1:c.1315C>T
      CE25672:p.Gln439Ter
      ZC504.4d.1:c.1270C>T
    HGVSg: CHROMOSOME_X:g.10425389G>A
  Sequence_details: SMap: S_parent: Sequence: ZC504
    Flanking_sequences: ataacgtaaataaattttcagcgatctcca aacaatcccatcctgcagccccacacttgg
    Mapping_target: ZC504
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00026842
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028859
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00003247
    Transcript: ZC504.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4d.1:c.1270C>T
        HGVSp: CE32767:p.Gln424Ter
        cDNA_position: 1353
        CDS_position: 1270
        Protein_position: 424
        Exon_number: 10/18
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC504.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4a.1:c.1315C>T
        HGVSp: CE25672:p.Gln439Ter
        cDNA_position: 1391
        CDS_position: 1315
        Protein_position: 439
        Exon_number: 9/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC504.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4c.1:c.1315C>T
        HGVSp: CE28273:p.Gln439Ter
        cDNA_position: 1315
        CDS_position: 1315
        Protein_position: 439
        Exon_number: 8/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC504.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC504.4b.1:c.1300C>T
        HGVSp: CE25673:p.Gln434Ter
        cDNA_position: 1376
        CDS_position: 1300
        Protein_position: 434
        Exon_number: 9/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: X 2.19027
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: 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
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00000550
  Reference: WBPaper00032446
    WBPaper00035198
    WBPaper00032247
  Method: Substitution_allele