WormBase Tree Display for Variation: WBVar00144268

WBVar00144268 Evidence: Paper_evidence: WBPaper00000502
  Name: Public_name: e1737
    Other_name (15)
    HGVSg: CHROMOSOME_V:g.6961893G>A
  Sequence_details: SMap: S_parent: Sequence: T07H8
    Flanking_sequences: gtcaaaaccgtgtggagatggaaaatcttg agcaacaggtaagtgaacacgaattgcact
    Mapping_target: T07H8
    Type_of_mutation: Substitution: g a 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.3657G>A
        HGVSp: CE37672:p.Trp1219Ter
        cDNA_position: 3657
        CDS_position: 3657
        Protein_position: 1219
        Exon_number: 16/28
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4b.1:c.3804G>A
        HGVSp: CE47875:p.Trp1268Ter
        cDNA_position: 3804
        CDS_position: 3804
        Protein_position: 1268
        Exon_number: 18/26
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4a.1:c.3816G>A
        HGVSp: CE48078:p.Trp1272Ter
        cDNA_position: 3869
        CDS_position: 3816
        Protein_position: 1272
        Exon_number: 19/32
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4h.1:c.3813G>A
        HGVSp: CE48065:p.Trp1271Ter
        cDNA_position: 3813
        CDS_position: 3813
        Protein_position: 1271
        Exon_number: 18/30
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.2:c.3780G>A
        HGVSp: CE47967:p.Trp1260Ter
        cDNA_position: 3781
        CDS_position: 3780
        Protein_position: 1260
        Exon_number: 19/31
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4f.1:c.3249G>A
        HGVSp: CE37673:p.Trp1083Ter
        cDNA_position: 3737
        CDS_position: 3249
        Protein_position: 1083
        Exon_number: 18/30
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4g.1:c.2607G>A
        HGVSp: CE37674:p.Trp869Ter
        cDNA_position: 2607
        CDS_position: 2607
        Protein_position: 869
        Exon_number: 10/22
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.1:c.3780G>A
        HGVSp: CE47967:p.Trp1260Ter
        cDNA_position: 3833
        CDS_position: 3780
        Protein_position: 1260
        Exon_number: 19/32
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 0.48278
  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 as well as some amphidial neuronal proceses are 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 in VC. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
  Reference: WBPaper00000502
  Method: Substitution_allele