WormBase Tree Display for Variation: WBVar00000249

WBVar00000249 Evidence: Paper_evidence: WBPaper00004883
  Name: Public_name: ar472
    Other_name: CE53317:p.Trp189Ter
      C25B8.7.1:c.567G>A
    HGVSg: CHROMOSOME_X:g.6630112C>T
  Sequence_details: SMap: S_parent: Sequence: C25B8
    Flanking_sequences: ctcaaatttcagttttgcgacatactactg atgtatagttatatgtactttgtaaatgca
    Mapping_target: C25B8
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00050677
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00008042
    Laboratory: GS
    Status: Live
  Affects: Gene: WBGene00000850
      WBGene00016090
    Transcript: C25B8.7.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C25B8.7.1:c.567G>A
        HGVSp: CE53317:p.Trp189Ter
        cDNA_position: 636
        CDS_position: 567
        Protein_position: 189
        Exon_number: 7/14
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: X -2.67897
  Description: Phenotype: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited an accumulation of several vesicles that are full of GFP and indistinguishable from the wild-type profile at the level of analysis. Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-20(e1282); arIs37[pmyo-3::ssGFP] Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Remark: Animals had normal movement. Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-20(e1282); arIs37[pmyo-3::ssGFP] Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00004883
    WBPaper00050677
  Method: Substitution_allele