WormBase Tree Display for Variation: WBVar00000071

WBVar00000071 Evidence: Paper_evidence: WBPaper00006439
  Name: Public_name: ad820
    Other_name: ad820sd
      Y105E8A.7b.1:c.77-1140G>A
      Y105E8A.7e.1:c.77-1140G>A
      CE33723:p.Gly60Glu
      Y105E8A.7a.1:c.77-1140G>A
      CE37055:p.Gly60Glu
      Y105E8A.7d.2:c.179G>A
      Y105E8A.7d.1:c.179G>A
      Y105E8A.7c.1:c.179G>A
      Y105E8A.7d.3:c.179G>A
    HGVSg: CHROMOSOME_I:g.14392185G>A
  Sequence_details: SMap: S_parent: Sequence: Y105E8A
    Flanking_sequences: tagttttgattatggtgttctggctgaaag ggtcctgcagtatgaggagtgagtttttgg
    Mapping_target: Y105E8A
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005519
      WBStrain00005540
    Laboratory: DA
    Status: Live
  Affects: Gene: WBGene00001147
      WBGene00002977
    Transcript: Y105E8A.7e.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y105E8A.7e.1:c.77-1140G>A
        Intron_number: 1/7
      Y105E8A.7d.1 (12)
      Y105E8A.7b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y105E8A.7b.1:c.77-1140G>A
        Intron_number: 2/15
      Y105E8A.7d.3 (12)
      Y105E8A.7d.2 (12)
      Y105E8A.7c.1 (12)
      Y105E8A.7a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y105E8A.7a.1:c.77-1140G>A
        Intron_number: 2/14
  Genetics: Interpolated_map_position: I 24.681
    Mapping_data: In_2_point: 7014
      In_multi_point: 3094
        3095
      In_pos_neg_data: 8331
        8332
        8333
        8334
        8335
        8336
  Description: Phenotype: WBPhenotype:0000402 Paper_evidence: WBPaper00056338
        Curator_confirmed: WBPerson36360
      WBPhenotype:0002056 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Eat; homozygote has slow pharyngeal pumping, lacks I-phase transients in the EPG, and is starved. Easy to score (ES3). ad820/+ pumps slower than wild type but faster than ad820/ad820 and is not very starved, which is very hard to score (ES1). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0002159 Paper_evidence: WBPaper00056338
        Curator_confirmed: WBPerson36360
  Reference: WBPaper00018319
    WBPaper00002341
    WBPaper00022005
    WBPaper00056338
  Remark: Added the references from WBVar00000072 as it seems there was a data integration issue.
  Method: Substitution_allele