WormBase Tree Display for Variation: WBVar02140358

WBVar02140358 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h14299
    Other_name: R12H7.1a.2:c.1038+275C>T
      R12H7.1a.1:c.1038+275C>T
      R12H7.1b.1:c.846+275C>T
    HGVSg: CHROMOSOME_X:g.13215330C>T
  Sequence_details: SMap: S_parent: Sequence: R12H7
    Flanking_sequences: CAATGACTGTGAAACTACAGAAATATAGAAAAGAAACATA CGTATTTCTTCTATCGCGAAGTCATACAATAGGTTTTAAA
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 13215252 13215252
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023854
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00006749
    Transcript: R12H7.1a.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: R12H7.1a.2:c.1038+275C>T
        Intron_number: 9/10
      R12H7.1a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: R12H7.1a.1:c.1038+275C>T
        Intron_number: 8/9
      R12H7.1b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: R12H7.1b.1:c.846+275C>T
        Intron_number: 5/5
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose