WormBase Tree Display for Variation: WBVar00248945

WBVar00248945 Evidence: Paper_evidence: WBPaper00004826
  Name: Public_name: sy234
    Other_name: F34D10.5.1:c.562C>T
      CE24940:p.Pro188Ser
    HGVSg: CHROMOSOME_III:g.3746689C>T
  Sequence_details: SMap: S_parent: Sequence: F34D10
    Flanking_sequences: cctatgaccttctgtattccaggcgtccgt cctacaaatgtgagcaatgcgagaagtcgt
    Mapping_target: F34D10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00004826
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030823
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00003033
    Transcript: F34D10.5.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F34D10.5.1:c.562C>T
        HGVSp: CE24940:p.Pro188Ser
        cDNA_position: 585
        CDS_position: 562
        Protein_position: 188
        Exon_number: 6/8
        Codon_change: Ccc/Tcc
        Amino_acid_change: P/S
  Genetics: Interpolated_map_position: III -4.25433
    Mapping_data: In_2_point: 6152
  Description: Phenotype: WBPhenotype:0000062 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Low: Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: lin-48(sy234); him-5(e1490) Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
      WBPhenotype:0000070 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
      WBPhenotype:0000093 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Lineage defects in B, F, U Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000443 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: males have abnormal spicules Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001297 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
      WBPhenotype:0001298 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000002 PATO:0000460 Paper_evidence: WBPaper00003719
                Curator_confirmed: WBPerson48
      WBPhenotype:0001299 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Remark: Abnormal cell divisions in F, U, and B lineages. Paper_evidence: WBPaper00003719
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: lin-48(sy234); him-5(e1490) Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00006052
    WBPaper00003719
  Method: Substitution_allele