WormBase Tree Display for Variation: WBVar00275044

WBVar00275044 Evidence: Paper_evidence: WBPaper00005908
  Name: Public_name: ve18
    Other_name: F13D11.2b.1:c.47_47+4del
      F13D11.2a.1:c.113_113+4del
    HGVSg: CHROMOSOME_X:g.5823178_5823182del
  Sequence_details: SMap: S_parent: Sequence: F13D11
    Flanking_sequences: gcaattttgtgtcaaaaacacctttaatag gttgatttgacacttattttcttaactgca
    Mapping_target: F13D11
    Type_of_mutation: Deletion: ggtga
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00033325
      WBStrain00040231
    Laboratory: RG
    Status: Live
  Affects: Gene: WBGene00001824
    Transcript: F13D11.2a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F13D11.2a.1:c.113_113+4del
        cDNA_position: 248-?
        CDS_position: 113-?
        Protein_position: 38-?
        Intron_number: 3/9
        Exon_number: 3/10
      F13D11.2b.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F13D11.2b.1:c.47_47+4del
        cDNA_position: 47-?
        CDS_position: 47-?
        Protein_position: 16-?
        Intron_number: 1/6
        Exon_number: 1/7
    Interactor (13)
  Genetics: Interpolated_map_position: X -4.27076
    Mapping_data: In_multi_point: 4396
  Description: Phenotype: WBPhenotype:0000033 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000134 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000135 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000167 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000170 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000202 Paper_evidence: WBPaper00035486
        Curator_confirmed: WBPerson3490
        Phenotype_assay: Genotype: apl-1::gfp::unc-54(3'UTR) Paper_evidence: WBPaper00035486
              Curator_confirmed: WBPerson3490
      WBPhenotype:0002232 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig 4, DD neurons have delayed synapse remodeling Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00037672
        Curator_confirmed: WBPerson712
        Remark: hbl-1 does not affect lifespan. Paper_evidence: WBPaper00037672
            Curator_confirmed: WBPerson712
      WBPhenotype:0000637 Paper_evidence: WBPaper00037672
        Curator_confirmed: WBPerson712
        Remark: A convincing hbl-1 Daf-c phenotype was not observed in the absence of daf-7 and daf-2 alleles, even in animals sensitized for dauer formation by the addition of daumone (Jeong et al. 2005) to the growth medium. Paper_evidence: WBPaper00037672
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040787
    WBPaper00037672
    WBPaper00036739
    WBPaper00005908
    WBPaper00018451
    WBPaper00019005
    WBPaper00026183
    WBPaper00035486
  Method: Deletion_allele