WormBase Tree Display for Variation: WBVar00241555

WBVar00241555 Evidence: Paper_evidence: WBPaper00028396
  Name: Public_name: rh147
    Other_name: CE02318:p.Trp335Ter
      T05C12.6c.1:c.897-62G>A
      T05C12.6a.1:c.1004G>A
      CE25100:p.Trp335Ter
      T05C12.6b.1:c.1004G>A
    HGVSg: CHROMOSOME_II:g.8183750C>T
  Sequence_details: SMap: S_parent: Sequence: T05C12
    Flanking_sequences: ctgaaacgatgcccctcgacgttggagttt ggtagaaaccgctgtgtaagggtacctcgc
    Mapping_target: T05C12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00028396
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034589
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00003241
    Transcript: T05C12.6b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T05C12.6b.1:c.1004G>A
        HGVSp: CE25100:p.Trp335Ter
        cDNA_position: 1017
        CDS_position: 1004
        Protein_position: 335
        Exon_number: 7/11
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      T05C12.6a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T05C12.6a.1:c.1004G>A
        HGVSp: CE02318:p.Trp335Ter
        cDNA_position: 1019
        CDS_position: 1004
        Protein_position: 335
        Exon_number: 7/11
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      T05C12.6c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: T05C12.6c.1:c.897-62G>A
        Intron_number: 6/9
  Genetics: Interpolated_map_position: II 0.749083
    Mapping_data: In_multi_point: 3292
  Description: Phenotype (14)
  Reference: WBPaper00015169
    WBPaper00021801
    WBPaper00014322
    WBPaper00028396
    WBPaper00011195
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003241 Amber_UAG W(335) to stop Paper_evidence: WBPaper00028396
  Method: Substitution_allele