WormBase Tree Display for Variation: WBVar00088335

WBVar00088335 Evidence: Paper_evidence: WBPaper00003386
  Name: Public_name: ku205
    Other_name: T22B7.1d.1:c.-554+1G>T
      T22B7.1b.3:c.-76+1G>T
      T22B7.1d.2:c.-554+1G>T
      T22B7.1c.1:c.243+1G>T
      T22B7.1a.3:c.387+1G>T
      T22B7.1a.1:c.387+1G>T
      T22B7.1e.1:c.291+1G>T
      T22B7.1b.2:c.-76+1G>T
      T22B7.1a.2:c.387+1G>T
      T22B7.1b.1:c.-76+1G>T
    HGVSg: CHROMOSOME_X:g.5671601G>T
  Sequence_details: SMap: S_parent: Sequence: T22B7
    Flanking_sequences: caagatctattatcagacgttatccgacag tattttaagttacatctcgtgaaagcgatt
    Mapping_target: T22B7
    Type_of_mutation: Substitution: g t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MH
    Status: Live
  Affects: Gene: WBGene00001182
    Transcript: T22B7.1e.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1e.1:c.291+1G>T
        Intron_number: 3/8
      T22B7.1d.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1d.1:c.-554+1G>T
        Intron_number: 3/9
      T22B7.1d.2 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1d.2:c.-554+1G>T
        Intron_number: 2/8
      T22B7.1a.3 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1a.3:c.387+1G>T
        Intron_number: 6/12
      T22B7.1b.2 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1b.2:c.-76+1G>T
        Intron_number: 3/10
      T22B7.1b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1b.1:c.-76+1G>T
        Intron_number: 3/10
      T22B7.1a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1a.1:c.387+1G>T
        Intron_number: 6/12
      T22B7.1b.3 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1b.3:c.-76+1G>T
        Intron_number: 2/9
      T22B7.1a.2 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1a.2:c.387+1G>T
        Intron_number: 5/11
      T22B7.1c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T22B7.1c.1:c.243+1G>T
        Intron_number: 3/8
  Genetics: Interpolated_map_position: X -4.4074
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000695 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0004001 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: Hermaphrodites fail to mate. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001414 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
  Reference: WBPaper00003386
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001182 Donor
  Method: Substitution_allele