WormBase Tree Display for Variation: WBVar00144312

WBVar00144312 Evidence: Paper_evidence: WBPaper00004503
  Name: Public_name: e1800
    Other_name: Y47H9C.4a.1:c.714+1G>A
      Y47H9C.4c.1:c.714+1G>A
      Y47H9C.4b.1:c.714+1G>A
    HGVSg: CHROMOSOME_I:g.11864481C>T
  Sequence_details: SMap: S_parent: Sequence: Y47H9C
    Flanking_sequences: ggagaattttgtctcaataagtgtgaagag tagaaatttctggaaaatttggaaaaatcg
    Mapping_target: Y47H9C
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004503
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000415
    Transcript: Y47H9C.4a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: Y47H9C.4a.1:c.714+1G>A
        Intron_number: 5/12
      Y47H9C.4c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: Y47H9C.4c.1:c.714+1G>A
        Intron_number: 5/11
      Y47H9C.4b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: Y47H9C.4b.1:c.714+1G>A
        Intron_number: 5/12
  Genetics: Interpolated_map_position: I 12.8826
  Description: Phenotype: WBPhenotype:0000241 Paper_evidence: WBPaper00004503
        Curator_confirmed: WBPerson712
        Remark: Cell corpses persisted in the L1 head. No cell corpses were observed in the wild-type L1 head. Paper_evidence: WBPaper00004503
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00004503
                Curator_confirmed: WBPerson712
  Reference: WBPaper00004503
  Method: Substitution_allele