WormBase Tree Display for Variation: WBVar00095114

WBVar00095114 Evidence: Paper_evidence: WBPaper00005810
  Name: Public_name: p674
    Other_name: CE34280:p.Arg154Ter
      CE40380:p.Arg213Ter
      C55B7.12b.1:c.637C>T
      C55B7.12a.1:c.460C>T
    HGVSg: CHROMOSOME_I:g.6518330G>A
  Sequence_details: SMap: S_parent: Sequence: C55B7
    Flanking_sequences: ttttctcaaagttcttctcttgttactcat gaaggtattagaggaagggtccattactat
    Mapping_target: C55B7
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030783
    Laboratory: PR
    Status: Live
  Affects: Gene: WBGene00000483
    Transcript: C55B7.12a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C55B7.12a.1:c.460C>T
        HGVSp: CE34280:p.Arg154Ter
        cDNA_position: 460
        CDS_position: 460
        Protein_position: 154
        Exon_number: 4/5
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C55B7.12b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C55B7.12b.1:c.637C>T
        HGVSp: CE40380:p.Arg213Ter
        cDNA_position: 676
        CDS_position: 637
        Protein_position: 213
        Exon_number: 6/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: I 1.20504
  Description: Phenotype: WBPhenotype:0000249 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor osmotic avoidance Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000354 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No ASEL/R differentiation (as seen with lim-6, gcy-7 and gcy-5 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs6, otIs114,otIs3, ntIs1 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000478 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: normal thermotaxis, poor osmotic avoidance Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001438 Paper_evidence: WBPaper00001786
        Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001786
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00011915
    WBPaper00006052
    WBPaper00001786
  Method: Substitution_allele