WormBase Tree Display for Variation: WBVar00242179

WBVar00242179 Evidence: Paper_evidence: WBPaper00004128
  Name: Public_name: s1639
    Other_name: K11C4.3c.1:c.353G>A
      CE12112:p.Trp118Ter
      K11C4.3a.1:c.146G>A
      CE47919:p.Trp49Ter
      CE48478:p.Trp49Ter
      CE28604:p.Trp49Ter
      K11C4.3b.1:c.146G>A
      K11C4.3d.1:c.146G>A
    HGVSg: CHROMOSOME_V:g.6882448G>A
  Sequence_details: SMap: S_parent: Sequence: K11C4
    Flanking_sequences: aactcgtgcaaaagaaaacatttacaaaat ggtcaactcacacttggttcgagtcagctg
    Mapping_target: K11C4
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004128
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000595
    Laboratory: BC
    Status: Live
  Affects: Gene: WBGene00006803
    Transcript: K11C4.3c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K11C4.3c.1:c.353G>A
        HGVSp: CE12112:p.Trp118Ter
        cDNA_position: 414
        CDS_position: 353
        Protein_position: 118
        Exon_number: 3/13
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      K11C4.3d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K11C4.3d.1:c.146G>A
        HGVSp: CE48478:p.Trp49Ter
        cDNA_position: 146
        CDS_position: 146
        Protein_position: 49
        Exon_number: 3/14
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      K11C4.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K11C4.3a.1:c.146G>A
        HGVSp: CE28604:p.Trp49Ter
        cDNA_position: 194
        CDS_position: 146
        Protein_position: 49
        Exon_number: 4/14
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      K11C4.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K11C4.3b.1:c.146G>A
        HGVSp: CE47919:p.Trp49Ter
        cDNA_position: 198
        CDS_position: 146
        Protein_position: 49
        Exon_number: 4/16
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 0.410211
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00001474
        Curator_confirmed: WBPerson712
        Remark: hatches Paper_evidence: WBPaper00001474
            Curator_confirmed: WBPerson712
      WBPhenotype:0000054 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: early/mid larval lethal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dominant weak Unc Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
  Reference: WBPaper00001474
    WBPaper00004128
  Method: Substitution_allele