WormBase Tree Display for Variation: WBVar00249122

WBVar00249122 Evidence: Paper_evidence: WBPaper00003574
  Name: Public_name: t1512
    Other_name (12)
    HGVSg: CHROMOSOME_III:g.13722275T>C
  Sequence_details: SMap: S_parent: Sequence: W06F12
    Flanking_sequences: aatatttccaattttgcaggactaaaatatt gcacactgcaaacatcctgcatcgagacatc
    Mapping_target: W06F12
    Type_of_mutation: Substitution: t c Paper_evidence: WBPaper00003574
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007762
      WBStrain00008483
    Laboratory: GE
    Status: Live
  Affects: Gene: WBGene00003048
    Transcript: W06F12.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1a.1:c.1070T>C
        HGVSp: CE29476:p.Leu357Ser
        cDNA_position: 1070
        CDS_position: 1070
        Protein_position: 357
        Exon_number: 9/11
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1c.1:c.479T>C
        HGVSp: CE29478:p.Leu160Ser
        cDNA_position: 747
        CDS_position: 479
        Protein_position: 160
        Exon_number: 6/8
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1b.1:c.554T>C
        HGVSp: CE29477:p.Leu185Ser
        cDNA_position: 601
        CDS_position: 554
        Protein_position: 185
        Exon_number: 7/9
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1e.1:c.530T>C
        HGVSp: CE37161:p.Leu177Ser
        cDNA_position: 530
        CDS_position: 530
        Protein_position: 177
        Exon_number: 5/6
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.2:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1057
        CDS_position: 971
        Protein_position: 324
        Exon_number: 11/13
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.1:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1095
        CDS_position: 971
        Protein_position: 324
        Exon_number: 11/13
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.3:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1022
        CDS_position: 971
        Protein_position: 324
        Exon_number: 10/12
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
    Interactor (20)
  Genetics: Interpolated_map_position: III 21.4033
  Description: Phenotype (17)
    Phenotype_not_observed: WBPhenotype:0000155 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: 0% of animals exhibited reversed T cell division polarity. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004946 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
            WBbt:0004944 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
  Reference: WBPaper00037107
    WBPaper00004350
    WBPaper00003570
    WBPaper00005116
    WBPaper00002946
    WBPaper00023727
    WBPaper00018985
  Method: Substitution_allele