WormBase Tree Display for Variation: WBVar02131218

WBVar02131218 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h6800
    Other_name: Y54E2A.4a.1:c.4612+598C>T
      Y54E2A.7.1:c.424+1G>A
      Y54E2A.4b.1:c.2458+598C>T
    HGVSg: CHROMOSOME_II:g.14772460C>T
  Sequence_details: SMap: S_parent: Sequence: Y54E2A
    Flanking_sequences: TGTGTTGTATAATAAAGTCTGGAAGTTCCTGAATTGCTTA CCGTCTTCTTATGATCCCCATCTTCCGTGACCTTCTTCTT
    Mapping_target: CHROMOSOME_II
    Source_location: 200 CHROMOSOME_II 14772363 14772363
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023729
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00013192
      WBGene00013189
    Transcript: Y54E2A.4a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y54E2A.4a.1:c.4612+598C>T
        Intron_number: 9/13
      Y54E2A.7.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: Y54E2A.7.1:c.424+1G>A
        Intron_number: 3/4
      Y54E2A.4b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y54E2A.4b.1:c.2458+598C>T
        Intron_number: 3/6
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose