WormBase Tree Display for Variation: WBVar00094782

WBVar00094782 Evidence: Paper_evidence: WBPaper00005236
    Person_evidence: WBPerson1705
  Name: Public_name: ot17
    Other_name: Y34B4A.8e.1:c.140-320_140-319delinsTT
      CE32011:p.Trp12Ter
      Y34B4A.8c.1:c.140-320_140-319delinsTT
      Y34B4A.8a.1:c.-5-320_-5-319delinsTT
      Y34B4A.8b.2:c.-325_-324delinsTT
      Y34B4A.8b.3:c.-5-320_-5-319delinsTT
      Y34B4A.8f.1:c.11-320_11-319delinsTT
      Y34B4A.8g.1:c.11-320_11-319delinsTT
      Y34B4A.3.1:c.35_36delinsAA
    HGVSg: CHROMOSOME_X:g.5275606_5275607delinsAA
  Sequence_details: SMap: S_parent: Sequence: Y34B4A
    Flanking_sequences: aaaaaattggaatgtgctcgattcgtggat aaaggtgttctagggaaaaatttgtttgtt
    Mapping_target: Y34B4A
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029287
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00002031
      WBGene00021324
    Transcript: Y34B4A.8g.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8g.1:c.11-320_11-319delinsTT
        Intron_number: 1/13
      Y34B4A.8c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8c.1:c.140-320_140-319delinsTT
        Intron_number: 3/16
      Y34B4A.8e.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8e.1:c.140-320_140-319delinsTT
        Intron_number: 3/15
      Y34B4A.3.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y34B4A.3.1:c.35_36delinsAA
        HGVSp: CE32011:p.Trp12Ter
        cDNA_position: 46-47
        CDS_position: 35-36
        Protein_position: 12
        Exon_number: 2/9
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      Y34B4A.8b.2 VEP_consequence: 5_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8b.2:c.-325_-324delinsTT
        cDNA_position: 1324-1325
        Exon_number: 2/16
      Y34B4A.8a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8a.1:c.-5-320_-5-319delinsTT
        Intron_number: 2/16
      Y34B4A.8f.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8f.1:c.11-320_11-319delinsTT
        Intron_number: 1/13
      Y34B4A.8b.3 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y34B4A.8b.3:c.-5-320_-5-319delinsTT
        Intron_number: 1/15
    Interactor: WBInteraction000052328
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00005236
  Genetics: Interpolated_map_position: X -5.87624
  Description: Phenotype: WBPhenotype:0000180 Paper_evidence: WBPaper00005236
        Person_evidence: WBPerson1705
        Curator_confirmed: WBPerson48
        Remark: at ventral midline Paper_evidence: WBPaper00005236
            Person_evidence: WBPerson1705
            Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Paper_evidence: WBPaper00005236
              Person_evidence: WBPerson1705
              Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00005236
          Person_evidence: WBPerson1705
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Paper_evidence: WBPaper00005236
            Person_evidence: WBPerson1705
            Curator_confirmed: WBPerson48
      WBPhenotype:0000384 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Axonal patterning defects Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: The midline choice (where the axons turn at the midline either to the left or right) is affected. Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00005236
          WBPaper00006471
        Person_evidence: WBPerson1705
        Curator_confirmed: WBPerson48
          WBPerson2021
        Remark: Non-lethal Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000541 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Most commissures reach the dorsal nerve cord Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000632 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Fasciculation is normal Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00005236
          WBPaper00006471
        Person_evidence: WBPerson1705
        Curator_confirmed: WBPerson48
          WBPerson2021
        Remark: Non-sterile Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00005236
    WBPaper00006471
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00002031 Amber_UAG_or_Opal_UGA W(12)stop Paper_evidence: WBPaper00005236
  Method: Substitution_allele