WormBase Tree Display for Variation: WBVar00088463

WBVar00088463 Evidence: Paper_evidence: WBPaper00005760
  Name: Public_name: ky652
    Other_name: CE42267:p.Val16SerfsTer10
      K02E10.8a.1:c.46del
      CE33930:p.Val16SerfsTer10
      K02E10.8c.1:c.46del
      K02E10.8b.1:c.46del
      CE37121:p.Val16SerfsTer10
    HGVSg: CHROMOSOME_X:g.2515264del
  Sequence_details: SMap: S_parent: Sequence: R11B5
    Flanking_sequences: ctattcgttgttgtaactgttggcaagtga cagttgaaacaacaacaacagtggccaggt
    Mapping_target: R11B5
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005219
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00006365
    Transcript: K02E10.8b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: K02E10.8b.1:c.46del
        HGVSp: CE42267:p.Val16SerfsTer10
        cDNA_position: 60
        CDS_position: 46
        Protein_position: 16
        Exon_number: 2/18
        Codon_change: Gtc/tc
        Amino_acid_change: V/X
      K02E10.8a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: K02E10.8a.1:c.46del
        HGVSp: CE37121:p.Val16SerfsTer10
        cDNA_position: 54
        CDS_position: 46
        Protein_position: 16
        Exon_number: 2/18
        Codon_change: Gtc/tc
        Amino_acid_change: V/X
      K02E10.8c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: K02E10.8c.1:c.46del
        HGVSp: CE33930:p.Val16SerfsTer10
        cDNA_position: 61
        CDS_position: 46
        Protein_position: 16
        Exon_number: 2/18
        Codon_change: Gtc/tc
        Amino_acid_change: V/X
    Interactor: WBInteraction000501848
      WBInteraction000502709
      WBInteraction000502711
      WBInteraction000502712
      WBInteraction000502714
      WBInteraction000502716
  Genetics: Interpolated_map_position: X -14.6831
    Mapping_data: In_multi_point: 4716
  Description: Phenotype: WBPhenotype:0000181 Paper_evidence: WBPaper00031671
        Curator_confirmed: WBPerson2021
        Remark: 26% of NSM neurons in syg-1 mutants have a shorter dorsal process and 24% have no dorsal process Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031671
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00031671
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: zdIs13 [ tph-1p::GFP] Paper_evidence: WBPaper00031671
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:1184
    Models_disease_in_annotation: WBDOannot00000574
  Reference: WBPaper00031671
    WBPaper00032446
    WBPaper00025644
  Remark: ky652 is associated with a single nucleotide deletion at residue 38263 of cosmid K02E10 Paper_evidence: WBPaper00005760
  Method: Deletion_allele