WormBase Tree Display for Variation: WBVar02131456

WBVar02131456 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h15882
    Other_name (12)
    HGVSg: CHROMOSOME_III:g.1092668G>A
  Sequence_details: SMap: S_parent: Sequence: F58B6
    Flanking_sequences: GGTGCTCAACAACGACGAGACTGACATGGAATACGTGCTG ACATTATCGATCCGGAATATGATGTTTGGCTCAAAATTTC
    Mapping_target: CHROMOSOME_III
    Source_location: 200 CHROMOSOME_III 1092656 1092656
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023749
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00003917
    Transcript: F58B6.3d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3d.1:c.1351G>A
        HGVSp: CE54548:p.Asp451Asn
        cDNA_position: 1358
        CDS_position: 1351
        Protein_position: 451
        Exon_number: 8/11
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3e.5 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3e.5:c.91G>A
        HGVSp: CE54523:p.Asp31Asn
        cDNA_position: 1703
        CDS_position: 91
        Protein_position: 31
        Exon_number: 3/7
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3e.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3e.2:c.91G>A
        HGVSp: CE54523:p.Asp31Asn
        cDNA_position: 1391
        CDS_position: 91
        Protein_position: 31
        Exon_number: 8/12
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3a.1:c.1492G>A
        HGVSp: CE54545:p.Asp498Asn
        cDNA_position: 1506
        CDS_position: 1492
        Protein_position: 498
        Exon_number: 9/13
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3b.1 (12)
      F58B6.3e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3e.1:c.91G>A
        HGVSp: CE54523:p.Asp31Asn
        cDNA_position: 1499
        CDS_position: 91
        Protein_position: 31
        Exon_number: 9/13
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3e.4 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3e.4:c.91G>A
        HGVSp: CE54523:p.Asp31Asn
        cDNA_position: 964
        CDS_position: 91
        Protein_position: 31
        Exon_number: 4/8
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
      F58B6.3e.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F58B6.3e.3:c.91G>A
        HGVSp: CE54523:p.Asp31Asn
        cDNA_position: 1317
        CDS_position: 91
        Protein_position: 31
        Exon_number: 7/11
        Codon_change: Gac/Aac
        Amino_acid_change: D/N
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose