WormBase Tree Display for Variation: WBVar02157252

WBVar02157252 Evidence: Person_evidence: WBPerson268
  Name: Public_name: n4784
    Other_name: CE29966:p.Arg27Ter
      F49E10.5a.1:c.79C>T
    HGVSg: CHROMOSOME_X:g.5862835C>T
  Sequence_details: SMap: S_parent: Sequence: F49E10
    Flanking_sequences: cgtggtcttgaagacaatcgccatttctat gaatcccaaaaagaccgcttattttacgac
    Mapping_target: F49E10
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00051526
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00006424
    Transcript: F49E10.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F49E10.5a.1:c.79C>T
        HGVSp: CE29966:p.Arg27Ter
        cDNA_position: 128
        CDS_position: 79
        Protein_position: 27
        Exon_number: 2/15
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Possibly_affects: WBGene00006424 Paper_evidence: WBPaper00062453
      Remark: CGC_name ctbp-1
  Isolation: Mutagen: EMS
    Forward_genetics: phenotypic screen
  Genetics: Interpolated_map_position: X -4.17133
  Description: Phenotype: WBPhenotype:0000717 Paper_evidence: WBPaper00062453
        Curator_confirmed: WBPerson268
        Remark: ceh-28, acbp-6 misexpressed in AIAs; glr-2, sra-11 not expressed in AIAs Paper_evidence: WBPaper00062453
            Curator_confirmed: WBPerson268
      WBPhenotype:0000905 Paper_evidence: WBPaper00062453
        Curator_confirmed: WBPerson268
        Remark: AIAs Paper_evidence: WBPaper00062453
            Curator_confirmed: WBPerson268
        EQ_annotations: Anatomy_term: WBbt:0006812 PATO:0000460 Paper_evidence: WBPaper00062453
                Curator_confirmed: WBPerson268
      WBPhenotype:0001085 Paper_evidence: WBPaper00062453
        Curator_confirmed: WBPerson268
        Affected_by: Molecule: WBMol:00005086 Paper_evidence: WBPaper00062453
              Curator_confirmed: WBPerson268
  Reference: WBPaper00062453
  Remark: [2022-03-22T00:59:10.254Z WBPerson2987] New Variation: WBPaper00062453; allele of ctbp-1; early nonsense mutation and one of many presumptive null alleles of the gene). Curator_confirmed: WBPerson2987
    alt_det = C to T mut_det = R(27)Opal Person_evidence: WBPerson268
      Curator_confirmed: WBPerson51134
    Variation information submitted by WBPerson268 on 2022-03-3_09:48:38 via the Allele submission form. Curator_confirmed: WBPerson51134
  Method: Substitution_allele