WormBase Tree Display for Variation: WBVar00094809

WBVar00094809 Evidence: Paper_evidence: WBPaper00027031
  Name: Public_name: ot72
    Other_name: F49H12.1b.1:c.353+1G>A
      F49H12.1a.1:c.431+1G>A
    HGVSg: CHROMOSOME_X:g.2090512G>A
  Sequence_details: SMap: S_parent: Sequence: F49H12
    Flanking_sequences: cgcctgtccatattgtggaaaaacttgtcg ttagtggtttttttaaacaacattcgctgt
    Mapping_target: F49H12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00027031
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00003087
    Transcript: F49H12.1b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F49H12.1b.1:c.353+1G>A
        Intron_number: 4/10
      F49H12.1a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F49H12.1a.1:c.431+1G>A
        Intron_number: 5/11
  Genetics: Interpolated_map_position: X -17.0553
  Description: Phenotype: WBPhenotype:0000688 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00030973
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Genotype: otIs3 [gcy-7p::GFP], ntIs1 [ gcy-5p::GFP] Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00030973
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is disrupted. 2 ASER Paper_evidence: WBPaper00030973
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Range: 91 96 Paper_evidence: WBPaper00030973
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00030973
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00030973
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
          Genotype: otIs3 [gcy-7p::GFP], ntIs1 [ gcy-5p::GFP] Paper_evidence: WBPaper00030973
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00030973
  Method: Substitution_allele