WormBase Tree Display for Variation: WBVar00248853

WBVar00248853 Name: Public_name: su151
    Other_name: F13C5.6b.1:c.683+1G>T
      F13C5.6a.1:c.683+1G>T
    HGVSg: CHROMOSOME_X:g.614558C>A
  Sequence_details: SMap: S_parent: Sequence: F13C5
    Flanking_sequences: cgaggaaagagccaataatgtggaattgat taagatttagtaaacttcaaaggggggttt
    Mapping_target: F13C5
    Type_of_mutation: Substitution: g t Paper_evidence: WBPaper00027703
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00008393
    Laboratory: HE
    Status: Live
  Affects: Gene: WBGene00006825
    Transcript: F13C5.6b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F13C5.6b.1:c.683+1G>T
        Intron_number: 7/13
      F13C5.6a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F13C5.6a.1:c.683+1G>T
        Intron_number: 7/12
    Interactor: WBInteraction000500267
  Genetics: Interpolated_map_position: X -19.5594
    Mapping_data: In_2_point: 395
      In_multi_point: 313
  Description: Phenotype: WBPhenotype:0000553 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal muscle birefringence Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly Egl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000781 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal muscle ultrastructure: collections of thin filaments near ends of cells Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000904 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal muscle ultrastructure Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001213 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: very slightly slow Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0004018 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: moves well Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00015407
    WBPaper00017410
    WBPaper00023723
    WBPaper00026215
  Method: Substitution_allele