WormBase Tree Display for Variation: WBVar00088209

WBVar00088209 Evidence: Paper_evidence: WBPaper00004897
  Name: Public_name: k156
    Other_name: CE20409:p.Trp202Ter
      Y106G6E.5a.1:c.584delinsA
      Y106G6E.5b.1:c.605delinsA
      CE27228:p.Trp195Ter
    HGVSg: CHROMOSOME_I:g.10225462delinsT
  Sequence_details: SMap: S_parent: Sequence: Y106G6E
    Flanking_sequences: tgctggaattagctgtaggagattttacat aaatcagtaccaaatgatgtagttgtgtct
    Mapping_target: Y106G6E
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MJ
    Status: Live
  Affects: Gene: WBGene00000426
    Transcript: Y106G6E.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5a.1:c.584delinsA
        HGVSp: CE27228:p.Trp195Ter
        cDNA_position: 584-585
        CDS_position: 584-585
        Protein_position: 195
        Exon_number: 3/9
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
      Y106G6E.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5b.1:c.605delinsA
        HGVSp: CE20409:p.Trp202Ter
        cDNA_position: 621-622
        CDS_position: 605-606
        Protein_position: 202
        Exon_number: 4/9
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I 4.75927
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Partially penetrant embryonic lethality Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000188 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Gonad arms are misshapened Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000195 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Migration of the distal tip cells was frequently misdirected Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00004897
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000885 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Mutants are deficient in the removal of apoptotic cell corpses Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00004897
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00000426 Amber_UAG_or_Opal_UGA W(195) to stop Paper_evidence: WBPaper00004897
  Method: Substitution_allele