WormBase Tree Display for Variation: WBVar00090758

WBVar00090758 Evidence: Paper_evidence: WBPaper00031298
  Name: Public_name: n3713
    Other_name: C33D12.12:n.80G>A
      C33D12.7.1:c.441-274G>A
      C33D12.7.2:c.441-274G>A
    HGVSg: CHROMOSOME_X:g.3064814G>A
  Sequence_details: SMap: S_parent: Sequence: C33D12
    Flanking_sequences: ACGTCGCTATTGTTGTGTAGTTATCGCCGG GTGGTCTCCTGCTCTTTTGCACAATAATGA
    Mapping_target: C33D12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00031298
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027381
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00000451
      WBGene00198628
    Transcript: C33D12.7.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C33D12.7.1:c.441-274G>A
        Intron_number: 3/4
      C33D12.12 VEP_consequence: non_coding_transcript_exon_variant
        VEP_impact: MODIFIER
        HGVSc: C33D12.12:n.80G>A
        cDNA_position: 80
        Exon_number: 1/1
      C33D12.7.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C33D12.7.2:c.441-274G>A
        Intron_number: 3/4
  Isolation: Mutagen: EMS Person_evidence: WBPerson566
  Genetics: Interpolated_map_position: X -12.4174
  Description: Phenotype: WBPhenotype:0001219 Paper_evidence: WBPaper00031298
        Person_evidence: WBPerson566
        Curator_confirmed: WBPerson1971
          WBPerson566
        Remark: Semidominantly causes CEM survival in hermaphrodites. Isolated from different pool of mutagenized P0s than was n3713. Person_evidence: WBPerson566
            Curator_confirmed: WBPerson1971
          Normally male-specific CEM neurons survive in hermaphrodites. See table 1. Paper_evidence: WBPaper00031298
            Curator_confirmed: WBPerson566
        Penetrance: Incomplete: Partial Person_evidence: WBPerson566
              Curator_confirmed: WBPerson1971
          High: Paper_evidence: WBPaper00031298
              Curator_confirmed: WBPerson566
        Semi_dominant: Paper_evidence: WBPaper00031298
          Person_evidence: WBPerson566
          Curator_confirmed: WBPerson1971
            WBPerson566
        Variation_effect: Gain_of_function_undetermined_type: Person_evidence: WBPerson566
            Curator_confirmed: WBPerson1971
          Hypermorph_gain_of_function: Paper_evidence: WBPaper00031298
            Curator_confirmed: WBPerson566
        Phenotype_assay: Genotype: nIs133 Person_evidence: WBPerson566
              Curator_confirmed: WBPerson1971
  Reference: WBPaper00031298
    WBPaper00010783
    WBPaper00010759
    WBPaper00025354
  Method: Substitution_allele