WormBase Tree Display for Variation: WBVar00143591

WBVar00143591 Evidence: Paper_evidence: WBPaper00002751
  Name: Public_name: e911
    Other_name: CE39210:p.Met198ThrfsTer7
      CE45243:p.Met198ThrfsTer7
      C01G10.11f.1:c.593_603del
      CE45264:p.Met107ThrfsTer7
      C01G10.11c.1:c.320_330del
      C01G10.11b.1:c.593_603del
      CE45251:p.Met58ThrfsTer7
      C01G10.11a.1:c.593_603del
      C01G10.11d.1:c.173_183del
      CE39211:p.Met198ThrfsTer7
    HGVSg: CHROMOSOME_V:g.15076958_15076968del
  Sequence_details: SMap: S_parent: Sequence: C01G10
    Flanking_sequences: cgtttttagtcatgcgatttcactggctcaa cgaacgatggaatcagttgattcaatgtatt
    Mapping_target: C01G10
    Type_of_mutation: Deletion: tgatgacggat Paper_evidence: WBPaper00002751
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (54)
    Laboratory: CB
      DR
      ZHY
      MTS
    Status: Live
  Affects: Gene: WBGene00006808
      WBGene00305285
      WBGene00305247
    Transcript: C01G10.11f.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C01G10.11f.1:c.593_603del
        HGVSp: CE45243:p.Met198ThrfsTer7
        cDNA_position: 717-727
        CDS_position: 593-603
        Protein_position: 198-201
        Exon_number: 7/12
        Codon_change: aTGATGACGGAT/a
        Amino_acid_change: MMTD/X
      C01G10.11d.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C01G10.11d.1:c.173_183del
        HGVSp: CE45251:p.Met58ThrfsTer7
        cDNA_position: 173-183
        CDS_position: 173-183
        Protein_position: 58-61
        Exon_number: 2/5
        Codon_change: aTGATGACGGAT/a
        Amino_acid_change: MMTD/X
      C01G10.11b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C01G10.11b.1:c.593_603del
        HGVSp: CE39211:p.Met198ThrfsTer7
        cDNA_position: 604-614
        CDS_position: 593-603
        Protein_position: 198-201
        Exon_number: 7/10
        Codon_change: aTGATGACGGAT/a
        Amino_acid_change: MMTD/X
      C01G10.11a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C01G10.11a.1:c.593_603del
        HGVSp: CE39210:p.Met198ThrfsTer7
        cDNA_position: 601-611
        CDS_position: 593-603
        Protein_position: 198-201
        Exon_number: 7/11
        Codon_change: aTGATGACGGAT/a
        Amino_acid_change: MMTD/X
      C25D7.19
      C01G10.20
      C01G10.11c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C01G10.11c.1:c.320_330del
        HGVSp: CE45264:p.Met107ThrfsTer7
        cDNA_position: 320-330
        CDS_position: 320-330
        Protein_position: 107-110
        Exon_number: 4/7
        Codon_change: aTGATGACGGAT/a
        Amino_acid_change: MMTD/X
    Interactor: WBInteraction000052100
  Genetics: Interpolated_map_position: V 7.32233
    Mapping_data: In_2_point (13)
      In_multi_point (64)
      In_pos_neg_data: 4288
        4289
        4290
        4304
  Description: Phenotype (30)
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 and gcy-7 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6, otIs3 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (19)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Deletion_allele