WormBase Tree Display for Variation: WBVar00144317

WBVar00144317 Evidence: Paper_evidence: WBPaper00005786
  Name: Public_name: e1805
    Other_name: F59C6.7a.1:c.655C>T
      F59C6.7b.1:c.394C>T
      CE11472:p.Gln132Ter
      CE31704:p.Gln219Ter
    HGVSg: CHROMOSOME_I:g.10507890G>A
  Sequence_details: SMap: S_parent: Sequence: F59C6
    Flanking_sequences: gaattttgatgagtttcagaagaatccactc aaagcgttctccaaagcaatacggatgcaat
    Mapping_target: F59C6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005786
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004474
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000492
    Transcript: F59C6.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59C6.7b.1:c.394C>T
        HGVSp: CE11472:p.Gln132Ter
        cDNA_position: 394
        CDS_position: 394
        Protein_position: 132
        Exon_number: 4/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F59C6.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59C6.7a.1:c.655C>T
        HGVSp: CE31704:p.Gln219Ter
        cDNA_position: 735
        CDS_position: 655
        Protein_position: 219
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000520976
  Genetics: Interpolated_map_position: I 5.05407
    Mapping_data: In_2_point: 788
        2591
      In_multi_point: 720
        3046
      In_pos_neg_data: 8307
        8308
        8309
        8310
  Description: Phenotype (13)
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0000478 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:0060340
    Models_disease_in_annotation: WBDOannot00000211
  Reference: WBPaper00000932
    WBPaper00035071
    WBPaper00028448
    WBPaper00029016
    WBPaper00006052
    WBPaper00002087
    WBPaper00001786
    WBPaper00017262
    WBPaper00016325
    WBPaper00064927
  Method: Substitution_allele