WormBase Tree Display for Variation: WBVar00094770

WBVar00094770 Evidence: Paper_evidence: WBPaper00029347
  Name: Public_name: os66
    Other_name: C37A2.4b.1:c.692_693delinsAA
      CE33761:p.Trp231Ter
      CE24832:p.Trp234Ter
      C37A2.4a.1:c.701_702delinsAA
    HGVSg: CHROMOSOME_I:g.6782646_6782647delinsAA
  Sequence_details: SMap: S_parent: Sequence: C37A2
    Flanking_sequences: gcgatggaataggatcaccaacaaaagttt tctcttatggtcaaacgagacgaaattcca
    Mapping_target: C37A2
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: HS
    Status: Live
  Affects: Gene: WBGene00000871
    Transcript: C37A2.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C37A2.4a.1:c.701_702delinsAA
        HGVSp: CE24832:p.Trp234Ter
        cDNA_position: 716-717
        CDS_position: 701-702
        Protein_position: 234
        Exon_number: 6/10
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C37A2.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C37A2.4b.1:c.692_693delinsAA
        HGVSp: CE33761:p.Trp231Ter
        cDNA_position: 714-715
        CDS_position: 692-693
        Protein_position: 231
        Exon_number: 6/10
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
    Interactor: WBInteraction000502904
  Genetics: Interpolated_map_position: I 1.31713
  Description: Phenotype: WBPhenotype:0000166 Paper_evidence: WBPaper00029347
        Curator_confirmed: WBPerson557
        Remark: In cye-1 mutants, some of the posterior daughters of the seam cells abnormally adopted syncytial fates in the early larval stages. Paper_evidence: WBPaper00029347
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: ajm-1::gfp Paper_evidence: WBPaper00029347
              Curator_confirmed: WBPerson557
      WBPhenotype:0001923 Paper_evidence: WBPaper00029347
        Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: ajm-1::gfp Paper_evidence: WBPaper00029347
              Curator_confirmed: WBPerson557
      WBPhenotype:0001927 Paper_evidence: WBPaper00029347
        Curator_confirmed: WBPerson557
        Penetrance: Incomplete: 32 percent showed the phenotype. Paper_evidence: WBPaper00029347
              Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: lag-2::GFP Paper_evidence: WBPaper00029347
              Curator_confirmed: WBPerson557
      WBPhenotype:0001928 Paper_evidence: WBPaper00029347
        Curator_confirmed: WBPerson557
        Penetrance: Incomplete: 30 percent showed the phenotype. Paper_evidence: WBPaper00029347
              Curator_confirmed: WBPerson557
  Reference: WBPaper00029347
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00000871 Amber_UAG_or_Opal_UGA
  Method: Substitution_allele