WormBase Tree Display for Variation: WBVar00142930

WBVar00142930 Evidence: Paper_evidence: WBPaper00005152
  Name: Public_name: e43
    Other_name: F48E8.1c.1:c.449G>A
      F48E8.1a.1:c.449G>A
      CE29046:p.Trp150Ter
      CE54061:p.Trp150Ter
      CE01953:p.Trp150Ter
      F48E8.1b.1:c.449G>A
    HGVSg: CHROMOSOME_III:g.5476183G>A
  Sequence_details: SMap: S_parent: Sequence: F48E8
    Flanking_sequences: acagtaactattctgacgctatctcgatct gttcaacgaggtaatttcaaatatttttct
    Mapping_target: F48E8
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00005152
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003055
    Transcript: F48E8.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F48E8.1b.1:c.449G>A
        HGVSp: CE29046:p.Trp150Ter
        cDNA_position: 494
        CDS_position: 449
        Protein_position: 150
        Exon_number: 4/8
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F48E8.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F48E8.1c.1:c.449G>A
        HGVSp: CE54061:p.Trp150Ter
        cDNA_position: 449
        CDS_position: 449
        Protein_position: 150
        Exon_number: 3/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F48E8.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F48E8.1a.1:c.449G>A
        HGVSp: CE01953:p.Trp150Ter
        cDNA_position: 492
        CDS_position: 449
        Protein_position: 150
        Exon_number: 4/8
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: III -1.62797
    Mapping_data: In_2_point: 51
        65
        67
        68
        69
      In_multi_point: 59
        67
        68
        69
        70
        71
        72
        78
        91
  Description: Phenotype: WBPhenotype:0002117 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: low penetrance tendency to form constriction behind head, may result in auto-decapitation Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00005152
  Method: Substitution_allele