WormBase Tree Display for Variation: WBVar00146627

WBVar00146627 Evidence: Paper_evidence: WBPaper00029020
  Name: Public_name: h662
    Other_name: Y47D3B.10.1:c.265-1G>A
    HGVSg: CHROMOSOME_III:g.11376138C>T
  Sequence_details: SMap: S_parent: Sequence: Y47D3B
    Flanking_sequences: ttttgtctatctcaatttctaaatggcctataaccccacaaatcttca atctttgactggaaggagatcgagtcgaaaatga
    Mapping_target: Y47D3B
    Type_of_mutation: Substitution: g a Person_evidence: WBPerson1589
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00003938
      WBStrain00003943
      WBStrain00004790
      WBStrain00005641
      WBStrain00005642
      WBStrain00007127
      WBStrain00007147
      WBStrain00007149
      WBStrain00007150
      WBStrain00023901
    Laboratory: KR
    Status: Live
  Affects: Gene: WBGene00001077
    Transcript: Y47D3B.10.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y47D3B.10.1:c.265-1G>A
        Intron_number: 2/8
  Genetics: Interpolated_map_position: III 8.86195
    Marked_rearrangement: hT2[dpy-18(h662) unc-59(e261)]
      hT2[dpy-18(h662)]
  Reference: WBPaper00029020
  Remark: [160309 ar2] The single base mutation g->a disruptes the splice site. An alternate site is used resulting in the errant inclusion of 57bp genomic sequence which includes a stop codon.
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001077 Nonsense
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001077 Acceptor
  Method: Substitution_allele