WormBase Tree Display for Variation: WBVar01473933

WBVar01473933 Name: Public_name: yb1723
    Other_name: C17D12.2b.1:c.1268-918C>T
      C17D12.2a.1:c.1291C>T
      C17D12.2d.1:c.974-918C>T
      CE50818:p.Leu333Phe
      CE36103:p.Leu431Phe
      C17D12.2c.1:c.997C>T
    HGVSg: CHROMOSOME_I:g.11600278C>T
  Sequence_details: SMap: S_parent: Sequence: C17D12
    Flanking_sequences: cttttagTGCTTGGTCCCGATGGCTGCAAC TTTTCATCTATCACCTGCCGCAAGAGTTTG
    Mapping_target: C17D12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023521
    Laboratory: KH
    Status: Live
  Affects: Gene: WBGene00006807
    Transcript: C17D12.2c.1 (12)
      C17D12.2b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C17D12.2b.1:c.1268-918C>T
        Intron_number: 7/7
      C17D12.2a.1 (12)
      C17D12.2d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C17D12.2d.1:c.974-918C>T
        Intron_number: 4/4
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 9.28949
  Description: Phenotype: WBPhenotype:0002119 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: The ybIs1622 unc-32 exon 7 alternative splicing reporter expresses Green in the wild-type background but Orange in this mutant. Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson1686
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1723 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000643 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: Non-Unc Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1723 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
  Method: Substitution_allele