WormBase Tree Display for Variation: WBVar00144046

WBVar00144046 Evidence: Paper_evidence: WBPaper00001793
  Name: Public_name: e1498
    Other_name: CE42646:p.Gln106Ter
      F01D4.6a.1:c.445C>T
      CE27422:p.Gln149Ter
      F01D4.6c.1:c.316C>T
      CE52302:p.Gln132Ter
      F01D4.6d.1:c.394C>T
    HGVSg: CHROMOSOME_IV:g.10460435G>A
  Sequence_details: SMap: S_parent: Sequence: F01D4
    Flanking_sequences: accgtatcctgtatgtcacattatcctcct aaatggatgacaacgcacctggagcaatag
    Mapping_target: F01D4
    Type_of_mutation: Substitution: C T Paper_evidence: WBPaper00001793
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Linked_to: WBVar01473870
  Affects: Gene: WBGene00003167
    Transcript: F01D4.6d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F01D4.6d.1:c.394C>T
        HGVSp: CE52302:p.Gln132Ter
        cDNA_position: 491
        CDS_position: 394
        Protein_position: 132
        Exon_number: 5/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F01D4.6c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F01D4.6c.1:c.316C>T
        HGVSp: CE42646:p.Gln106Ter
        cDNA_position: 316
        CDS_position: 316
        Protein_position: 106
        Exon_number: 3/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F01D4.6a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F01D4.6a.1:c.445C>T
        HGVSp: CE27422:p.Gln149Ter
        cDNA_position: 546
        CDS_position: 445
        Protein_position: 149
        Exon_number: 6/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: IV 4.59788
  Description: Phenotype: WBPhenotype:0000456 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
      WBPhenotype:0000816 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Remark: Mechanosensory cells remain small and do not have processes. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
      WBPhenotype:0001310 Paper_evidence: WBPaper00000502
        Curator_confirmed: WBPerson712
        Remark: ALM cells more lateral than in WT Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00000502
                Curator_confirmed: WBPerson712
  Reference: WBPaper00000502
    WBPaper00001793
    WBPaper00010529
  Method: Substitution_allele