WormBase Tree Display for Variation: WBVar00090915

WBVar00090915 Evidence: Paper_evidence: WBPaper00035439
  Name: Public_name: n5123
    Other_name: Y92C3B.2a.1:c.538_539delinsTT
      CE27339:p.Thr180Phe
    HGVSg: CHROMOSOME_III:g.1072533_1072534delinsAA
  Sequence_details: SMap: S_parent: Sequence: Y92C3B
    Flanking_sequences: aatttttctcattttttaggcccatcagtg ttgtcaatcacgtcgtctctacgttggaaa
    Mapping_target: Y92C3B
    Type_of_mutation: Substitution: ac tt
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00006697
    Transcript: Y92C3B.2a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y92C3B.2a.1:c.538_539delinsTT
        HGVSp: CE27339:p.Thr180Phe
        cDNA_position: 538-539
        CDS_position: 538-539
        Protein_position: 180
        Exon_number: 3/8
        Codon_change: ACt/TTt
        Amino_acid_change: T/F
  Genetics: Interpolated_map_position: III -24.6736
  Description: Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: Viable at 25C Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001807 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: No apparent effect on the alternative splicing of the unc-93 transcript Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RT PCR Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00035439
  Method: Substitution_allele