WormBase Tree Display for Variation: WBVar00242460

WBVar00242460 Evidence: Paper_evidence: WBPaper00032261
  Name: Public_name: sa22
    Other_name: T14G12.2.1:c.24-1G>A
    HGVSg: CHROMOSOME_X:g.3729461G>A
  Sequence_details: SMap: S_parent: Sequence: T14G12
    Flanking_sequences: ataaataaatcattactccaactttttgca aattccagagccaattgctcttccaacaga
    Mapping_target: T14G12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00032261
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022822
    Laboratory: JT
    Status: Live
  Affects: Gene: WBGene00006454
    Transcript: T14G12.2.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: T14G12.2.1:c.24-1G>A
        Intron_number: 2/9
    Interactor: WBInteraction000524187
  Genetics: Interpolated_map_position: X -9.69193
    Mapping_data: In_multi_point: 1551
        1588
        2291
  Description: Phenotype: WBPhenotype:0000650 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: defecation defective Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000651 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: moderately constipated Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001793 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: anterior body contraction (aBoc) and expulsion muscle contraction (Exp) missing in about 6 of 7 defecation cycles, adult males unaffected and mate well. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00032261
  Method: Substitution_allele