WormBase Tree Display for Variation: WBVar00088151

WBVar00088151 Evidence: Paper_evidence: WBPaper00027711
  Name: Public_name: ju49
    Other_name (13)
    HGVSg: CHROMOSOME_X:g.7224053C>T
  Sequence_details: SMap: S_parent: Sequence: ZK867
    Flanking_sequences: attgtggccgctacaaatgcttccggacag gaggcgatggaactccggattccacagaca
    Mapping_target: ZK867
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00027711
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CZ
    Status: Live
  Affects: Gene: WBGene00044068
    Transcript: ZK867.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1d.1:c.1036C>T
        HGVSp: CE29653:p.Arg346Ter
        cDNA_position: 1036
        CDS_position: 1036
        Protein_position: 346
        Exon_number: 7/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1b.1:c.85C>T
        HGVSp: CE28198:p.Arg29Ter
        cDNA_position: 1356
        CDS_position: 85
        Protein_position: 29
        Exon_number: 7/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1b.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1b.3:c.85C>T
        HGVSp: CE28198:p.Arg29Ter
        cDNA_position: 1236
        CDS_position: 85
        Protein_position: 29
        Exon_number: 7/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1b.4 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1b.4:c.85C>T
        HGVSp: CE28198:p.Arg29Ter
        cDNA_position: 904
        CDS_position: 85
        Protein_position: 29
        Exon_number: 7/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1f.1:c.1036C>T
        HGVSp: CE53637:p.Arg346Ter
        cDNA_position: 1397
        CDS_position: 1036
        Protein_position: 346
        Exon_number: 8/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1b.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1b.2:c.85C>T
        HGVSp: CE28198:p.Arg29Ter
        cDNA_position: 1362
        CDS_position: 85
        Protein_position: 29
        Exon_number: 8/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1c.1:c.985C>T
        HGVSp: CE35819:p.Arg329Ter
        cDNA_position: 1181
        CDS_position: 985
        Protein_position: 329
        Exon_number: 7/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK867.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK867.1e.1:c.985C>T
        HGVSp: CE28199:p.Arg329Ter
        cDNA_position: 985
        CDS_position: 985
        Protein_position: 329
        Exon_number: 6/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: X -1.79055
    Mapping_data: In_multi_point: 5701
      In_pos_neg_data: 10764
        10765
        10766
        10767
  Description: Phenotype (17)
    Phenotype_not_observed: WBPhenotype:0000680 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00027711
              Curator_confirmed: WBPerson48
      WBPhenotype:0000905 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
        Remark: visualized using panneuronal GFP marker, edIs20, and a GABAergic-specific GFP marker, juIs76 Paper_evidence: WBPaper00027711
            Curator_confirmed: WBPerson48
      WBPhenotype:0000926 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
        Remark: visualized by phalloidin staining Paper_evidence: WBPaper00027711
            Curator_confirmed: WBPerson48
      WBPhenotype:0001310 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
        Remark: visualized using panneuronal GFP marker, edIs20, and a GABAergic-specific GFP marker, juIs76 Paper_evidence: WBPaper00027711
            Curator_confirmed: WBPerson48
      WBPhenotype:0001312 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
        Remark: visualized using panneuronal GFP marker, edIs20, and a GABAergic-specific GFP marker, juIs76 Paper_evidence: WBPaper00027711
            Curator_confirmed: WBPerson48
      WBPhenotype:0001320 Paper_evidence: WBPaper00027711
        Curator_confirmed: WBPerson48
  Reference: WBPaper00027711
  Method: Substitution_allele