WormBase Tree Display for Variation: WBVar00317252

WBVar00317252 Evidence: Paper_evidence: WBPaper00038049
  Name: Public_name: n3418
    Other_name: B0464.5b.1:c.426G>A
      B0464.5a.2:c.1290G>A
      CE48284:p.Trp46Ter
      CE36373:p.Trp142Ter
      CE36580:p.Trp430Ter
      B0464.5a.1:c.1290G>A
      CE20457:p.Trp142Ter
      B0464.5c.1:c.426G>A
      B0464.5d.1:c.138G>A
    HGVSg: CHROMOSOME_III:g.9459403G>A
  Sequence_details: SMap: S_parent: Sequence: B0464
    Flanking_sequences: gagatatcatgtgattcgtaaacttggatg ggtcacttttctacggtttggctggcgtgg
    Mapping_target: B0464
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00038049
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00004980
    Transcript: B0464.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0464.5b.1:c.426G>A
        HGVSp: CE20457:p.Trp142Ter
        cDNA_position: 454
        CDS_position: 426
        Protein_position: 142
        Exon_number: 5/13
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      B0464.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0464.5a.1:c.1290G>A
        HGVSp: CE36580:p.Trp430Ter
        cDNA_position: 1746
        CDS_position: 1290
        Protein_position: 430
        Exon_number: 4/11
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      B0464.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0464.5c.1:c.426G>A
        HGVSp: CE36373:p.Trp142Ter
        cDNA_position: 460
        CDS_position: 426
        Protein_position: 142
        Exon_number: 5/13
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      B0464.5a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0464.5a.2:c.1290G>A
        HGVSp: CE36580:p.Trp430Ter
        cDNA_position: 1290
        CDS_position: 1290
        Protein_position: 430
        Exon_number: 3/11
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      B0464.5d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0464.5d.1:c.138G>A
        HGVSp: CE48284:p.Trp46Ter
        cDNA_position: 138
        CDS_position: 138
        Protein_position: 46
        Exon_number: 2/8
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: III 0.535704
  Description: Phenotype: WBPhenotype:0000688 Paper_evidence: WBPaper00038049
        Curator_confirmed: WBPerson190
        Penetrance: Complete: Paper_evidence: WBPaper00038049
              Curator_confirmed: WBPerson190
        Recessive: Paper_evidence: WBPaper00038049
          Curator_confirmed: WBPerson190
  Reference: WBPaper00038049
  Method: Substitution_allele