WormBase Tree Display for Variation: WBVar00143048

WBVar00143048 Evidence: Paper_evidence: WBPaper00004453
  Name: Public_name: e228
    Other_name: CE47887:p.Arg155Ter
      Y50E8A.4c.1:c.463C>T
      CE47829:p.Arg224Ter
      Y50E8A.4a.1:c.670C>T
      CE47979:p.Arg155Ter
      Y50E8A.4b.1:c.463C>T
    HGVSg: CHROMOSOME_V:g.14733125G>A
  Sequence_details: SMap: S_parent: Sequence: Y50E8A
    Flanking_sequences: gtcgcggaaggtggaatacgagtgaagctt gactcgttgaaactgccggatttggagatc
    Mapping_target: Y50E8A
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004131
      WBStrain00022737
      WBStrain00022738
      WBStrain00022749
      WBStrain00029194
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006795
    Transcript: Y50E8A.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50E8A.4b.1:c.463C>T
        HGVSp: CE47887:p.Arg155Ter
        cDNA_position: 496
        CDS_position: 463
        Protein_position: 155
        Exon_number: 6/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y50E8A.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50E8A.4a.1:c.670C>T
        HGVSp: CE47829:p.Arg224Ter
        cDNA_position: 675
        CDS_position: 670
        Protein_position: 224
        Exon_number: 7/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y50E8A.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50E8A.4c.1:c.463C>T
        HGVSp: CE47979:p.Arg155Ter
        cDNA_position: 498
        CDS_position: 463
        Protein_position: 155
        Exon_number: 6/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: V 6.74738
    Mapping_data: In_2_point: 134
        3128
      In_multi_point (13)
      In_pos_neg_data: 4302
        6710
  Description: Phenotype: WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000181 Paper_evidence: WBPaper00031671
        Curator_confirmed: WBPerson2021
        Remark: In the unc-61 mutant, 19% of the dorsal processes were too long or absent, and 5% of the subventral branches were truncated Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00031671
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: zdIs13 [ tph-1p::GFP] Paper_evidence: WBPaper00031671
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000352 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor backing Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000623 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: variable defects in neuroanatomy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000697 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: protrusive vulva Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001297 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: male tail very abnormal (rays absent, spicules reduced etc.) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0004018 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: irregular waveform in forward movement Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00031671
    WBPaper00000031
    WBPaper00014204
    WBPaper00025382
    WBPaper00010843
    WBPaper00025381
  Method: Substitution_allele