WormBase Tree Display for Variation: WBVar00143896

WBVar00143896 Name: Public_name: e1292
    Other_name (19)
    HGVSg: CHROMOSOME_V:g.6959053C>T
  Sequence_details: SMap: S_parent: Sequence: T07H8
    Flanking_sequences: gtggtaccaattacaactgttcccgatgaa aaagcaaaattgaggaagttgaaacatcag
    Mapping_target: T07H8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024622
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004291
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003165
    Transcript: T07H8.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4e.1:c.1306C>T
        HGVSp: CE37672:p.Gln436Ter
        cDNA_position: 1306
        CDS_position: 1306
        Protein_position: 436
        Exon_number: 7/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4b.1:c.1453C>T
        HGVSp: CE47875:p.Gln485Ter
        cDNA_position: 1453
        CDS_position: 1453
        Protein_position: 485
        Exon_number: 9/26
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4i.1:c.1453C>T
        HGVSp: CE47870:p.Gln485Ter
        cDNA_position: 1453
        CDS_position: 1453
        Protein_position: 485
        Exon_number: 9/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4a.1:c.1465C>T
        HGVSp: CE48078:p.Gln489Ter
        cDNA_position: 1518
        CDS_position: 1465
        Protein_position: 489
        Exon_number: 10/32
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4h.1:c.1465C>T
        HGVSp: CE48065:p.Gln489Ter
        cDNA_position: 1465
        CDS_position: 1465
        Protein_position: 489
        Exon_number: 9/30
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.2:c.1429C>T
        HGVSp: CE47967:p.Gln477Ter
        cDNA_position: 1430
        CDS_position: 1429
        Protein_position: 477
        Exon_number: 10/31
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4c.1:c.1453C>T
        HGVSp: CE47886:p.Gln485Ter
        cDNA_position: 1453
        CDS_position: 1453
        Protein_position: 485
        Exon_number: 9/14
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4f.1:c.898C>T
        HGVSp: CE37673:p.Gln300Ter
        cDNA_position: 1386
        CDS_position: 898
        Protein_position: 300
        Exon_number: 9/30
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4g.1:c.256C>T
        HGVSp: CE37674:p.Gln86Ter
        cDNA_position: 256
        CDS_position: 256
        Protein_position: 86
        Exon_number: 1/22
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T07H8.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.1:c.1429C>T
        HGVSp: CE47967:p.Gln477Ter
        cDNA_position: 1482
        CDS_position: 1429
        Protein_position: 477
        Exon_number: 10/32
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: V 0.482283
  Description: Phenotype: WBPhenotype:0000456 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
      WBPhenotype:0001310 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Remark: Cell bodies of anterior touch neurons displaced dorsally. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
      WBPhenotype:0001398 Paper_evidence: WBPaper00038449
        Curator_confirmed: WBPerson3779
      WBPhenotype:0001534 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Remark: ECM is missing along the VC. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
      WBPhenotype:0001676 Paper_evidence: WBPaper00038449
        Curator_confirmed: WBPerson3779
    Phenotype_not_observed: WBPhenotype:0000054 Paper_evidence: WBPaper00038449
        Curator_confirmed: WBPerson3779
  Reference: WBPaper00038449
    WBPaper00000502
    WBPaper00015216
  Method: Substitution_allele