WormBase Tree Display for Variation: WBVar02158619

WBVar02158619 Evidence: Person_evidence: WBPerson39938
  Name: Public_name: ola285
    Other_name: CE51009:p.Ile5753Asn
      CE51026:p.Ile5753Asn
      F45E4.3b.1:c.17258T>A
      F45E4.3a.1:c.17258T>A
    HGVSg: CHROMOSOME_IV:g.7608882T>A
  Sequence_details: SMap: S_parent: Sequence: F45E4
    Flanking_sequences: gtggtctaacccaagaagagctagataaca tgcacaggctactgaaagtgctcagcaaga
    Mapping_target: F45E4
    Type_of_mutation: Substitution: t a
    SeqStatus: Sequenced
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00053684
    Laboratory: DCR
    Status: Live
  Affects: Gene: WBGene00018468
    Transcript: F45E4.3b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F45E4.3b.1:c.17258T>A
        HGVSp: CE51026:p.Ile5753Asn
        cDNA_position: 17258
        CDS_position: 17258
        Protein_position: 5753
        Exon_number: 15/33
        Codon_change: aTt/aAt
        Amino_acid_change: I/N
      F45E4.3a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F45E4.3a.1:c.17258T>A
        HGVSp: CE51009:p.Ile5753Asn
        cDNA_position: 17258
        CDS_position: 17258
        Protein_position: 5753
        Exon_number: 15/41
        Codon_change: aTt/aAt
        Amino_acid_change: I/N
  Possibly_affects: WBGene00018468 Paper_evidence: WBPaper00065262
      Remark: CGC_name cla-1
  Isolation: Mutagen: EMS
    Forward_genetics: standard phenotypic screen
  Genetics: Interpolated_map_position: IV 3.36501
  Description: Phenotype: WBPhenotype:0000436 Paper_evidence: WBPaper00065262
        Curator_confirmed: WBPerson39938
        Remark: Defects in ATG-9 synaptic distribution Paper_evidence: WBPaper00065262
            Curator_confirmed: WBPerson39938
        EQ_annotations: GO_term: GO:0045202 PATO:0000460 Paper_evidence: WBPaper00065262
                Curator_confirmed: WBPerson39938
  Reference: WBPaper00065262
  Remark: alt_det = t to a mut_det = I(5753)N Person_evidence: WBPerson39938
      Curator_confirmed: WBPerson51134
    Variation information submitted by WBPerson39938 on 2023-06-16_12:15:19 via the Allele submission form. Curator_confirmed: WBPerson51134
    [2023-06-20T20:38:20.436Z WBPerson2987] New Variation: WBPaper00065262, allele of cla-1 Curator_confirmed: WBPerson2987
  Method: Substitution_allele