WormBase Tree Display for Variation: WBVar00146519

WBVar00146519 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h283
    Other_name: CE13473:p.Trp216Ter
      T09B4.9.1:c.648G>A
    HGVSg: CHROMOSOME_I:g.6179754C>T
  Sequence_details: SMap: S_parent: Sequence: T09B4
    Flanking_sequences: AATAAGTATTTGATTCTGAAAAGTTTTTCCATCCTGAATA CATTTTGAATCTTTGTGCAGAGTTACATCGGTAGCTGAGC
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 6179756 6179756
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023750
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00020383
    Transcript: T09B4.9.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T09B4.9.1:c.648G>A
        HGVSp: CE13473:p.Trp216Ter
        cDNA_position: 648
        CDS_position: 648
        Protein_position: 216
        Exon_number: 7/12
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I 0.874002
    Mapping_data: In_pos_neg_data (14)
  Description: Phenotype: WBPhenotype:0000055 Paper_evidence: WBPaper00002829
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
      WBPhenotype:0000057 Paper_evidence: WBPaper00003985
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00040589
        Curator_confirmed: WBPerson712
  Reference: WBPaper00040589
    WBPaper00002829
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: Substitution_allele