WormBase Tree Display for Variation: WBVar01473932

WBVar01473932 Name: Public_name: yb1725
    Other_name: CE36103:p.Ser469=
      C17D12.2d.1:c.974-802C>T
      CE50818:p.Ser371=
      C17D12.2b.1:c.1268-802C>T
      C17D12.2c.1:c.1113C>T
      C17D12.2a.1:c.1407C>T
    HGVSg: CHROMOSOME_I:g.11600394C>T
  Sequence_details: SMap: S_parent: Sequence: C17D12
    Flanking_sequences: AGTGTTTGTCGACCGTGCCACTAATCAGAG AAGTGCTTCGgttcgtgttttttattgata
    Mapping_target: C17D12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023522
    Laboratory: KH
    Status: Live
  Affects: Gene: WBGene00006807
    Transcript: C17D12.2c.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C17D12.2c.1:c.1113C>T
        HGVSp: CE50818:p.Ser371=
        cDNA_position: 1113
        CDS_position: 1113
        Protein_position: 371
        Exon_number: 5/6
        Codon_change: agC/agT
        Amino_acid_change: S
      C17D12.2b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C17D12.2b.1:c.1268-802C>T
        Intron_number: 7/7
      C17D12.2a.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C17D12.2a.1:c.1407C>T
        HGVSp: CE36103:p.Ser469=
        cDNA_position: 1463
        CDS_position: 1407
        Protein_position: 469
        Exon_number: 9/11
        Codon_change: agC/agT
        Amino_acid_change: S
      C17D12.2d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C17D12.2d.1:c.974-802C>T
        Intron_number: 4/4
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 9.28976
  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: KH1725 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: KH1725 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