WormBase Tree Display for Variation: WBVar00143858

WBVar00143858 Evidence: Paper_evidence: WBPaper00040121
  Name: Public_name: e1248
    Other_name: CE43283:p.Ser454Phe
      R166.1a.2:c.1361C>T
      R166.1a.1:c.1361C>T
    HGVSg: CHROMOSOME_II:g.10532754C>T
  Sequence_details: SMap: S_parent: Sequence: R166
    Flanking_sequences: catcaatgatccacgcgtttcgcaagtatt tgcaatttacggacgttttgacactaaacg
    Mapping_target: R166
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00040121
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004492
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003107
    Transcript: R166.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: R166.1a.1:c.1361C>T
        HGVSp: CE43283:p.Ser454Phe
        cDNA_position: 1610
        CDS_position: 1361
        Protein_position: 454
        Exon_number: 9/11
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      R166.1a.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: R166.1a.2:c.1361C>T
        HGVSp: CE43283:p.Ser454Phe
        cDNA_position: 1448
        CDS_position: 1361
        Protein_position: 454
        Exon_number: 8/10
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
  Genetics: Interpolated_map_position: II 3.07443
    Mapping_data: In_multi_point: 1392
        1393
        1394
        1395
      In_pos_neg_data: 3356
        3671
        3674
        3788
        3789
        3790
  Description: Phenotype: WBPhenotype:0000446 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some adult males have supernumerary molt, second adult cuticle Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000506 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult male has slightly swollen bursa. e1248/Df more severe. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Hermaphrodite has slightly protruding vulva. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001364 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: reduced fan, thin rays Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040121
    WBPaper00014014
  Method: Substitution_allele