WormBase Tree Display for Variation: WBVar00089208

WBVar00089208 Evidence: Person_evidence: WBPerson554
  Name: Public_name: mu74
    Other_name (15)
    HGVSg: CHROMOSOME_X:g.2718795_2718869del
  Sequence_details: SMap: S_parent: Sequence: T02C5
    Flanking_sequences: ttgttttatgaagaaattttgaggcttttc tttcagatttcagaaagctgtacagcagta
    Mapping_target: T02C5
    Type_of_mutation: Deletion: aataccgcattaacggccgtgtttacagtggagagtatattgaagattttggcattcggtgttagagtaagttaa Person_evidence: WBPerson554
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CF
    Status: Live
  Affects: Gene: WBGene00006742
    Transcript: T02C5.5g.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5g.1:c.3712_3777+9del
        cDNA_position: 3712-?
        CDS_position: 3712-?
        Protein_position: 1238-?
        Intron_number: 17/28
        Exon_number: 17/29
      T02C5.5q.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5q.1:c.3520_3585+9del
        cDNA_position: 3520-?
        CDS_position: 3520-?
        Protein_position: 1174-?
        Intron_number: 17/27
        Exon_number: 17/28
      T02C5.5j.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5j.1:c.3517_3582+9del
        cDNA_position: 3517-?
        CDS_position: 3517-?
        Protein_position: 1173-?
        Intron_number: 17/28
        Exon_number: 17/29
      T02C5.5o.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5o.1:c.3922_3987+9del
        cDNA_position: 3922-?
        CDS_position: 3922-?
        Protein_position: 1308-?
        Intron_number: 21/31
        Exon_number: 21/32
      T02C5.5f.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5f.1:c.3712_3777+9del
        cDNA_position: 3712-?
        CDS_position: 3712-?
        Protein_position: 1238-?
        Intron_number: 17/29
        Exon_number: 17/30
      T02C5.5h.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5h.1:c.3712_3777+9del
        cDNA_position: 3712-?
        CDS_position: 3712-?
        Protein_position: 1238-?
        Intron_number: 17/28
        Exon_number: 17/29
      T02C5.5c.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5c.1:c.3244_3309+9del
        cDNA_position: 3244-?
        CDS_position: 3244-?
        Protein_position: 1082-?
        Intron_number: 15/27
        Exon_number: 15/28
      T02C5.5p.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5p.1:c.4078_4143+9del
        cDNA_position: 4078-?
        CDS_position: 4078-?
        Protein_position: 1360-?
        Intron_number: 23/33
        Exon_number: 23/34
      T02C5.5k.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5k.1:c.3517_3582+9del
        cDNA_position: 3517-?
        CDS_position: 3517-?
        Protein_position: 1173-?
        Intron_number: 17/27
        Exon_number: 17/28
      T02C5.5m.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5m.1:c.3517_3582+9del
        cDNA_position: 3517-?
        CDS_position: 3517-?
        Protein_position: 1173-?
        Intron_number: 17/27
        Exon_number: 17/28
      T02C5.5l.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5l.1:c.3517_3582+9del
        cDNA_position: 3517-?
        CDS_position: 3517-?
        Protein_position: 1173-?
        Intron_number: 17/28
        Exon_number: 17/29
      T02C5.5a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5a.1:c.3244_3309+9del
        cDNA_position: 3244-?
        CDS_position: 3244-?
        Protein_position: 1082-?
        Intron_number: 15/20
        Exon_number: 15/21
      T02C5.5n.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5n.1:c.3946_4011+9del
        cDNA_position: 3946-?
        CDS_position: 3946-?
        Protein_position: 1316-?
        Intron_number: 21/31
        Exon_number: 21/32
      T02C5.5i.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5i.1:c.3712_3777+9del
        cDNA_position: 3712-?
        CDS_position: 3712-?
        Protein_position: 1238-?
        Intron_number: 17/27
        Exon_number: 17/28
      T02C5.5b.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T02C5.5b.1:c.3646_3711+9del
        cDNA_position: 3702-?
        CDS_position: 3646-?
        Protein_position: 1216-?
        Intron_number: 18/29
        Exon_number: 18/30
  Genetics: Interpolated_map_position: X -13.8049
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000005 Person_evidence: WBPerson554
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson554
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson554
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Person_evidence: WBPerson554
            Curator_confirmed: WBPerson48
      WBPhenotype:0000023 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000556 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004583 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson554
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson554
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson554
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Person_evidence: WBPerson554
            Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00006052
  Remark: mu74 deletes the exon/intron boundary so it is likely that 3' protein synthesis would cease at the next stop codon within the intron. Person_evidence: WBPerson554
  Method: Deletion_allele