WormBase Tree Display for Variation: WBVar00143348

WBVar00143348 Evidence: Paper_evidence: WBPaper00031592
  Name: Public_name: e625
    Other_name (32)
    HGVSg: CHROMOSOME_IV:g.6166905G>A
  Sequence_details (5)
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006352
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006809
    Transcript: C11D2.6b.1 (12)
      C11D2.6i.1 (12)
      C11D2.6a.1 (12)
      C11D2.6l.1 (12)
      C11D2.6e.1 (12)
      C11D2.6g.1 (12)
      C11D2.6m.1 (12)
      C11D2.6k.1 (12)
      C11D2.6o.1 (12)
      C11D2.6p.1 (12)
      C11D2.6f.1 (12)
      C11D2.6d.1 (12)
      C11D2.6c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6c.1:c.1748C>T
        HGVSp: CE48978:p.Ala583Val
        cDNA_position: 1748
        CDS_position: 1748
        Protein_position: 583
        Exon_number: 10/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6h.1 (12)
      C11D2.6n.1 (12)
      C11D2.6j.1 (12)
  Genetics: Interpolated_map_position: IV 3.06177
    Mapping_data: In_2_point: 323
      In_multi_point: 1422
  Description: Phenotype (27)
    Phenotype_not_observed: WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: active Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:0081048
    Models_disease_in_annotation: WBDOannot00001105
  Reference: WBPaper00043908
    WBPaper00000031
    WBPaper00031592
    WBPaper00025465
    WBPaper00064938
  Method: Substitution_allele