WormBase Tree Display for Variation: WBVar00143927

WBVar00143927 Evidence: Paper_evidence: WBPaper00000502
  Name: Public_name: e1336
    Other_name (19)
    HGVSg: CHROMOSOME_V:g.6960399C>T
  Sequence_details: SMap: S_parent: Sequence: T07H8
    Flanking_sequences: ccaaagcttgaggaagattgcaaaaatgat agtgggaaattcagtggtttttcaattctg
    Mapping_target: T07H8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024622
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003165
    Transcript: T07H8.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4e.1:c.2464C>T
        HGVSp: CE37672:p.Gln822Ter
        cDNA_position: 2464
        CDS_position: 2464
        Protein_position: 822
        Exon_number: 11/28
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4b.1:c.2611C>T
        HGVSp: CE47875:p.Gln871Ter
        cDNA_position: 2611
        CDS_position: 2611
        Protein_position: 871
        Exon_number: 13/26
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4i.1:c.2611C>T
        HGVSp: CE47870:p.Gln871Ter
        cDNA_position: 2611
        CDS_position: 2611
        Protein_position: 871
        Exon_number: 13/13
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4a.1:c.2623C>T
        HGVSp: CE48078:p.Gln875Ter
        cDNA_position: 2676
        CDS_position: 2623
        Protein_position: 875
        Exon_number: 14/32
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4h.1:c.2620C>T
        HGVSp: CE48065:p.Gln874Ter
        cDNA_position: 2620
        CDS_position: 2620
        Protein_position: 874
        Exon_number: 13/30
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.2:c.2587C>T
        HGVSp: CE47967:p.Gln863Ter
        cDNA_position: 2588
        CDS_position: 2587
        Protein_position: 863
        Exon_number: 14/31
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4c.1:c.2611C>T
        HGVSp: CE47886:p.Gln871Ter
        cDNA_position: 2611
        CDS_position: 2611
        Protein_position: 871
        Exon_number: 13/14
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4f.1:c.2056C>T
        HGVSp: CE37673:p.Gln686Ter
        cDNA_position: 2544
        CDS_position: 2056
        Protein_position: 686
        Exon_number: 13/30
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4g.1:c.1414C>T
        HGVSp: CE37674:p.Gln472Ter
        cDNA_position: 1414
        CDS_position: 1414
        Protein_position: 472
        Exon_number: 5/22
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T07H8.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.1:c.2587C>T
        HGVSp: CE47967:p.Gln863Ter
        cDNA_position: 2640
        CDS_position: 2587
        Protein_position: 863
        Exon_number: 14/32
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: V 0.482537
  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: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
  Reference: WBPaper00000502
  Method: Substitution_allele