WormBase Tree Display for Variation: WBVar00241539

WBVar00241539 Evidence: Paper_evidence: WBPaper00028396
  Name: Public_name: rh94
    Other_name: T05C12.6b.1:c.1019+1G>T
      T05C12.6c.1:c.897-46G>T
      T05C12.6a.1:c.1019+1G>T
    HGVSg: CHROMOSOME_II:g.8183734C>A
  Sequence_details: SMap: S_parent: Sequence: T05C12
    Flanking_sequences: cgacgttggagtttgggtagaaaccgctgt taagggtacctcgcaagatttattttctta
    Mapping_target: T05C12
    Type_of_mutation: Substitution: g t Paper_evidence: WBPaper00028396
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034588
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00003241
    Transcript: T05C12.6b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T05C12.6b.1:c.1019+1G>T
        Intron_number: 7/10
      T05C12.6a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T05C12.6a.1:c.1019+1G>T
        Intron_number: 7/10
      T05C12.6c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: T05C12.6c.1:c.897-46G>T
        Intron_number: 6/9
  Genetics: Interpolated_map_position: II 0.749081
  Description: Phenotype (14)
  Reference: WBPaper00028396
  Remark: rh94 abrogates a splice site, resulting in read-through into intron 6 where the first codon is a stop codon. Paper_evidence: WBPaper00028396
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003241 Splice_site
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003241 Coding_exon Paper_evidence: WBPaper00028396
  Method: Substitution_allele