WormBase Tree Display for Variation: WBVar00090864

WBVar00090864 Evidence: Paper_evidence: WBPaper00035439
  Name: Public_name: n4562
    Other_name: Y116A8C.32a.1:c.1374T>A
      CE28108:p.Cys458Ter
    HGVSg: CHROMOSOME_IV:g.17105977A>T
  Sequence_details: SMap: S_parent: Sequence: Y116A8C
    Flanking_sequences: acaatcctttgaaatatgaccaaatgctcc caatttgtacattttatttgatttgtcaca
    Mapping_target: Y116A8C
    Type_of_mutation: Substitution: a t Curator_confirmed: WBPerson4055
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027479
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00013808
    Transcript: Y116A8C.32a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y116A8C.32a.1:c.1374T>A
        HGVSp: CE28108:p.Cys458Ter
        cDNA_position: 1374
        CDS_position: 1374
        Protein_position: 458
        Exon_number: 7/9
        Codon_change: tgT/tgA
        Amino_acid_change: C/*
  Genetics: Interpolated_map_position: IV 16.1547
  Description: Phenotype: WBPhenotype:0000688 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: n4562 causes sterility at all temperatures Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001807 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: sfa-1(n4562) does not cause obvious alternative splicing of the sup-10 and unc-93 transcripts Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RT-PCR Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00035439
  Remark: Variation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues.
    [200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strand Curator_confirmed: WBPerson4055
  Method: Substitution_allele