WormBase Tree Display for Variation: WBVar00144144

WBVar00144144 Evidence: Paper_evidence: WBPaper00000502
  Name: Public_name: e1604
    Other_name (19)
    HGVSg: CHROMOSOME_V:g.6959589G>A
  Sequence_details: SMap: S_parent: Sequence: T07H8
    Flanking_sequences: acaatcgtttcaggaatgcgaagcattttg tacgattcctcttgtggagatcaagatttt
    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.1788G>A
        HGVSp: CE37672:p.Trp596Ter
        cDNA_position: 1788
        CDS_position: 1788
        Protein_position: 596
        Exon_number: 8/28
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4b.1:c.1935G>A
        HGVSp: CE47875:p.Trp645Ter
        cDNA_position: 1935
        CDS_position: 1935
        Protein_position: 645
        Exon_number: 10/26
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4i.1:c.1935G>A
        HGVSp: CE47870:p.Trp645Ter
        cDNA_position: 1935
        CDS_position: 1935
        Protein_position: 645
        Exon_number: 10/13
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4a.1:c.1947G>A
        HGVSp: CE48078:p.Trp649Ter
        cDNA_position: 2000
        CDS_position: 1947
        Protein_position: 649
        Exon_number: 11/32
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4h.1:c.1947G>A
        HGVSp: CE48065:p.Trp649Ter
        cDNA_position: 1947
        CDS_position: 1947
        Protein_position: 649
        Exon_number: 10/30
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.2:c.1911G>A
        HGVSp: CE47967:p.Trp637Ter
        cDNA_position: 1912
        CDS_position: 1911
        Protein_position: 637
        Exon_number: 11/31
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4c.1:c.1935G>A
        HGVSp: CE47886:p.Trp645Ter
        cDNA_position: 1935
        CDS_position: 1935
        Protein_position: 645
        Exon_number: 10/14
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4f.1:c.1380G>A
        HGVSp: CE37673:p.Trp460Ter
        cDNA_position: 1868
        CDS_position: 1380
        Protein_position: 460
        Exon_number: 10/30
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4g.1:c.738G>A
        HGVSp: CE37674:p.Trp246Ter
        cDNA_position: 738
        CDS_position: 738
        Protein_position: 246
        Exon_number: 2/22
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T07H8.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T07H8.4d.1:c.1911G>A
        HGVSp: CE47967:p.Trp637Ter
        cDNA_position: 1964
        CDS_position: 1911
        Protein_position: 637
        Exon_number: 11/32
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 0.482384
  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 in VC. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
  Reference: WBPaper00000502
  Method: Substitution_allele