WormBase Tree Display for Variation: WBVar00144013

WBVar00144013 Evidence: Paper_evidence: WBPaper00002543
  Name: Public_name: e1456
    Other_name: Y71F9B.5a.2:c.1225-1G>A
      Y71F9B.5a.1:c.1225-1G>A
      Y71F9B.5c.1:c.1021-1G>A
      Y71F9B.5b.1:c.1225-1G>A
    HGVSg: CHROMOSOME_I:g.2714727G>A
  Sequence_details: SMap: S_parent: Sequence: Y71F9B
    Flanking_sequences: aaaaaaatcaataaaatttatcgattttca ggcacagacacatcgaaattggagaaacta
    Mapping_target: Y71F9B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002543
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004335
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003006
    Transcript: Y71F9B.5c.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y71F9B.5c.1:c.1021-1G>A
        Intron_number: 5/6
      Y71F9B.5a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y71F9B.5a.1:c.1225-1G>A
        Intron_number: 8/10
      Y71F9B.5b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y71F9B.5b.1:c.1225-1G>A
        Intron_number: 8/10
      Y71F9B.5a.2 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y71F9B.5a.2:c.1225-1G>A
        Intron_number: 9/11
  Genetics: Interpolated_map_position: I -7.32093
  Description: Phenotype: WBPhenotype:0000257 Paper_evidence: WBPaper00002543
        Curator_confirmed: WBPerson712
        Remark: Adult hermaphrodites exhibited phasmid defects as assayed by DiO dye-filling. Paper_evidence: WBPaper00002543
            Curator_confirmed: WBPerson712
      WBPhenotype:0000469 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: Although the migration of QL is posterior, QL descendants reverse direction during migration and migrate anteriorly. QL descendant migration defects observed were similar to other lin-17 alleles (data not shown). Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
      WBPhenotype:0000700 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: Single protrusion posterior to the vulva Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00002582
    WBPaper00000762
    WBPaper00002543
  Method: Substitution_allele