WormBase Tree Display for Variation: WBVar02138370

WBVar02138370 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h7053
    Other_name: Y116F11B.12a.1:c.1359-1980C>T
      Y116F11B.12c.1:c.1359-1592C>T
      Y116F11B.12a.2:c.1359-1980C>T
      Y116F11B.13.1:c.365G>A
      Y116F11B.12b.1:c.1358+2153C>T
      CE50458:p.Arg122Lys
    HGVSg: CHROMOSOME_V:g.19885027G>A
  Sequence_details: SMap: S_parent: Sequence: Y116F11B
    Flanking_sequences: TCTAAGAAACTGTACAGTGTTCCAATGGATCCATTTCGAA AACTATTGGATGTTATGAACGAAAAAATGAGTACTGGGCA
    Mapping_target: CHROMOSOME_V
    Source_location: 200 CHROMOSOME_V 19884990 19884990
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023732
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00001629
      WBGene00013828
    Transcript: Y116F11B.12b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y116F11B.12b.1:c.1358+2153C>T
        Intron_number: 6/7
      Y116F11B.12a.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y116F11B.12a.2:c.1359-1980C>T
        Intron_number: 7/10
      Y116F11B.12a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y116F11B.12a.1:c.1359-1980C>T
        Intron_number: 8/11
      Y116F11B.13.1 (11)
      Y116F11B.12c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y116F11B.12c.1:c.1359-1592C>T
        Intron_number: 6/6
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose