WormBase Tree Display for Variation: WBVar00144876

WBVar00144876 Evidence: Paper_evidence: WBPaper00002188
  Name: Public_name: e2562
    Other_name: F49E8.5.1:c.547_557del
      F49E8.5.2:c.547_557del
      CE28408:p.Tyr183IlefsTer2
    HGVSg: CHROMOSOME_IV:g.7552234_7552244del
  Sequence_details: SMap: S_parent: Sequence: F49E8
    Flanking_sequences: ctgctcagagacatcccagcttcagccgct atatgaatatctaaaaaagaaattctctgg
    Mapping_target: F49E8
    Type_of_mutation: Deletion: tatctttcagt Paper_evidence: WBPaper00002188
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004627
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000996
    Transcript: F49E8.5.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F49E8.5.2:c.547_557del
        HGVSp: CE28408:p.Tyr183IlefsTer2
        cDNA_position: 588-598
        CDS_position: 547-557
        Protein_position: 183-186
        Exon_number: 4/6
        Codon_change: TATCTTTCAGTa/a
        Amino_acid_change: YLSV/X
      F49E8.5.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F49E8.5.1:c.547_557del
        HGVSp: CE28408:p.Tyr183IlefsTer2
        cDNA_position: 557-567
        CDS_position: 547-557
        Protein_position: 183-186
        Exon_number: 3/5
        Codon_change: TATCTTTCAGTa/a
        Amino_acid_change: YLSV/X
  Genetics: Interpolated_map_position: IV 3.35413
    Mapping_data: In_multi_point: 2022
        2023
        2025
        2026
      In_pos_neg_data: 5935
  Description: Phenotype: WBPhenotype:0000052 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: maternal-effect embryonic lethal (mn); embryos arrest at the completion of gastrulation with little or no tissue differentiation; probable null Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00002188
  Method: Deletion_allele