WormBase Tree Display for Variation: WBVar00144879

WBVar00144879 Evidence: Paper_evidence: WBPaper00004450
  Name: Public_name: e2575
    Other_name: K04D7.5b.1:c.2916T>G
      CE35579:p.Tyr972Ter
      CE40976:p.Tyr972Ter
      K04D7.5a.1:c.2916T>G
    HGVSg: CHROMOSOME_IV:g.10201524T>G
  Sequence_details: SMap: S_parent: Sequence: K04D7
    Flanking_sequences: tatgccaggtctcgatatggtaccattgta gaggaagacgttgaggaatgtattattgaa
    Mapping_target: K04D7
    Type_of_mutation: Substitution: t g
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00001653
    Transcript: K04D7.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K04D7.5a.1:c.2916T>G
        HGVSp: CE35579:p.Tyr972Ter
        cDNA_position: 2919
        CDS_position: 2916
        Protein_position: 972
        Exon_number: 9/16
        Codon_change: taT/taG
        Amino_acid_change: Y/*
      K04D7.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K04D7.5b.1:c.2916T>G
        HGVSp: CE40976:p.Tyr972Ter
        cDNA_position: 2916
        CDS_position: 2916
        Protein_position: 972
        Exon_number: 8/15
        Codon_change: taT/taG
        Amino_acid_change: Y/*
    Interactor: WBInteraction000538597
      WBInteraction000538602
  Genetics: Interpolated_map_position: IV 4.55972
    Mapping_data: In_multi_point: 2785
      In_pos_neg_data: 7375
  Description: Phenotype: WBPhenotype:0000688 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: sterile Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000691 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal gonad development Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000699 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: vulva development mostly abnormal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000774 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some spermatogenesis, little oogenesis Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000837 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: often failure of division of Z1, Z4 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004577 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0004574 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001962 Paper_evidence: WBPaper00006440
        Curator_confirmed: WBPerson2987
        Remark: Table 9 Paper_evidence: WBPaper00006440
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 36 Paper_evidence: WBPaper00006440
              Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00006440
                Curator_confirmed: WBPerson2987
          GO_term: GO:0008406 PATO:0000460 Paper_evidence: WBPaper00006440
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: +/Balancer Paper_evidence: WBPaper00006440
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00006440
    WBPaper00022033
  Method: Substitution_allele