WormBase Tree Display for Variation: WBVar00241413

WBVar00241413 Evidence: Paper_evidence: WBPaper00001192
  Name: Public_name: r884
    Other_name: CE53740:p.Trp1943Ter
      CE30258:p.Trp1941Ter
      C48B6.6b.1:c.5829G>A
      C48B6.6a.1:c.5823G>A
    HGVSg: CHROMOSOME_I:g.6903267C>T
  Sequence_details: SMap: S_parent: Sequence: C48B6
    Flanking_sequences: ttggatgcgtgcgaatgatgcaacaacttg tggtcggttacaaaacgatattcaagatca
    Mapping_target: C48B6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00024418
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: TR
    Status: Live
  Affects: Gene: WBGene00004879
    Transcript: C48B6.6b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B6.6b.1:c.5829G>A
        HGVSp: CE53740:p.Trp1943Ter
        cDNA_position: 5829
        CDS_position: 5829
        Protein_position: 1943
        Exon_number: 35/42
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      C48B6.6a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B6.6a.1:c.5823G>A
        HGVSp: CE30258:p.Trp1941Ter
        cDNA_position: 5851
        CDS_position: 5823
        Protein_position: 1941
        Exon_number: 36/44
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I 1.47328
  Description: Phenotype: WBPhenotype:0001538 Paper_evidence: WBPaper00001192
        Curator_confirmed: WBPerson2021
        Remark: Isolated as a suppressor of unc-54(r293). This allele exhibits morphological abnormalities in the genitalia Paper_evidence: WBPaper00001192
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001192
          Curator_confirmed: WBPerson2021
  Reference: WBPaper00001192
  Method: Substitution_allele